Canonical Allele Identifier: CA314816
Gene: GAMT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 205586
ClinVar RCV Id: RCV000187571
dbSNP Id: rs796052525

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398960C>A , CM000681.2:g.1398960C>A GRCh38
NC_000019.9:g.1398959C>A , CM000681.1:g.1398959C>A GRCh37
NC_000019.8:g.1349959C>A NCBI36
NG_009785.1:g.7594G>T

Transcript Alleles

HGVS Amino-acid change
NM_000156.5:c.526G>T VV NP_000147.1:p.Glu176Ter
NM_138924.2:c.526G>T VV NP_620279.1:p.Glu176Ter
ENST00000252288.6:c.526G>T ENSP00000252288.1:p.Glu176Ter
ENST00000447102.7:c.526G>T ENSP00000403536.2:p.Glu176Ter
ENST00000591788.2:n.211G>T ENSP00000466341.2:p.Glu71Ter