Canonical Allele Identifier: CA254379
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 8304
dbSNP Id: rs121909272
gnomAD v2: 19-1398979-C-T
gnomAD v4: 19-1398980-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398980C>T , CM000681.2:g.1398980C>T GRCh38
NC_000019.9:g.1398979C>T , CM000681.1:g.1398979C>T GRCh37
NC_000019.8:g.1349979C>T NCBI36
NG_009785.1:g.7574G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.506G>A MANE Select ENSP00000252288.1:p.Cys169Tyr
ENST00000447102.8:c.506G>A ENSP00000403536.2:p.Cys169Tyr
ENST00000591788.3:c.189G>A
ENST00000640164.1:n.339G>A
ENST00000640762.1:c.437G>A ENSP00000492031.1:p.Cys146Tyr
ENST00000252288.6:c.506G>A ENSP00000252288.1:p.Cys169Tyr
ENST00000447102.7:c.506G>A ENSP00000403536.2:p.Cys169Tyr
ENST00000591788.2:c.191G>A ENSP00000466341.2:p.Cys64Tyr
NM_000156.5:c.506G>A NP_000147.1:p.Cys169Tyr
NM_138924.2:c.506G>A NP_620279.1:p.Cys169Tyr
NM_000156.6:c.506G>A MANE Select NP_000147.1:p.Cys169Tyr
NM_138924.3:c.506G>A NP_620279.1:p.Cys169Tyr