Canonical Allele Identifier: CA402994587
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1312507
ClinVar RCV Id: RCV001761401
dbSNP Id: rs760101382
gnomAD v2: 19-1398994-C-A
gnomAD v3: 19-1398995-C-A
gnomAD v4: 19-1398995-C-A
MyVariant Identifiers: chr19:g.1398994C>A (hg19) chr19:g.1398995C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.491G>T MANE Select ENSP00000252288.1:p.Gly164Val
ENST00000447102.8:c.491G>T ENSP00000403536.2:p.Gly164Val
ENST00000591788.3:c.174G>T
ENST00000640164.1:n.324G>T
ENST00000640762.1:c.422G>T ENSP00000492031.1:p.Gly141Val
ENST00000252288.6:c.491G>T ENSP00000252288.1:p.Gly164Val
ENST00000447102.7:c.491G>T ENSP00000403536.2:p.Gly164Val
ENST00000591788.2:c.176G>T ENSP00000466341.2:p.Gly59Val
NM_000156.5:c.491G>T NP_000147.1:p.Gly164Val
NM_138924.2:c.491G>T NP_620279.1:p.Gly164Val
NM_000156.6:c.491G>T MANE Select NP_000147.1:p.Gly164Val
NM_138924.3:c.491G>T NP_620279.1:p.Gly164Val
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