Canonical Allele Identifier: CA2576548808
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401570C>A , CM000681.2:g.1401570C>A GRCh38
NC_000019.9:g.1401569C>A , CM000681.1:g.1401569C>A GRCh37
NC_000019.8:g.1352569C>A NCBI36
NG_009785.1:g.4984G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000447102.8:c.-94G>T ENSP00000403536.2:n.-94G>T
ENST00000447102.7:c.-94G>T ENSP00000403536.2:n.-94G>T
NM_000156.5:c.-94G>T NP_000147.1:n.-94G>T
NM_138924.2:c.-94G>T NP_620279.1:n.-94G>T
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