Transcript #00000131 (NM_000520.4, HEXA gene)

Transcript name hexosaminidase A (alpha polypeptide)
Gene name HEXA (hexosaminidase A (alpha polypeptide))
Chromosome 15
Transcript - NCBI ID NM_000520.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000511.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

2 entries on 1 page. Showing entries 1 - 2.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
./. 11 c.1171G>A r.(?) p.(Val391Met) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 11 c.1171G>A r.(?) p.(Val391Met) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
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