Canonical Allele Identifier: CA2317700565
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs966975299
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401555C>A , CM000681.2:g.1401555C>A GRCh38
NC_000019.9:g.1401554C>A , CM000681.1:g.1401554C>A GRCh37
NC_000019.8:g.1352554C>A NCBI36
NG_009785.1:g.4999G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000447102.8:c.-79G>T ENSP00000403536.2:n.-79G>T
ENST00000447102.7:c.-79G>T ENSP00000403536.2:n.-79G>T
NM_000156.5:c.-79G>T NP_000147.1:n.-79G>T
NM_138924.2:c.-79G>T NP_620279.1:n.-79G>T
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