Canonical Allele Identifier: CA314807
Gene: GAMT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 205581
ClinVar RCV Id: RCV000187566
dbSNP Id: rs760101382

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398995C>T , CM000681.2:g.1398995C>T GRCh38
NC_000019.9:g.1398994C>T , CM000681.1:g.1398994C>T GRCh37
NC_000019.8:g.1349994C>T NCBI36
NG_009785.1:g.7559G>A

Transcript Alleles

HGVS Amino-acid change
NM_000156.5:c.491G>A VV NP_000147.1:p.Gly164Asp
NM_138924.2:c.491G>A VV NP_620279.1:p.Gly164Asp
ENST00000252288.6:c.491G>A ENSP00000252288.1:p.Gly164Asp
ENST00000447102.7:c.491G>A ENSP00000403536.2:p.Gly164Asp
ENST00000591788.2:n.176G>A ENSP00000466341.2:p.Gly59Asp