Canonical Allele Identifier: CA504895157
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1121955
ClinVar RCV Id: RCV001452407
dbSNP Id: rs1555777026
gnomAD v2: 19-1398993-G-A
gnomAD v3: 19-1398994-G-A
gnomAD v4: 19-1398994-G-A
MyVariant Identifiers: chr19:g.1398993G>A (hg19) chr19:g.1398993_1398994delinsAC (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398994G>A , CM000681.2:g.1398994G>A GRCh38
NC_000019.9:g.1398993G>A , CM000681.1:g.1398993G>A GRCh37
NC_000019.8:g.1349993G>A NCBI36
NG_009785.1:g.7560C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.492C>T MANE Select ENSP00000252288.1:p.Gly164=
ENST00000447102.8:c.492C>T ENSP00000403536.2:p.Gly164=
ENST00000591788.3:c.175C>T
ENST00000640164.1:n.325C>T
ENST00000640762.1:c.423C>T ENSP00000492031.1:p.Gly141=
ENST00000252288.6:c.492C>T ENSP00000252288.1:p.Gly164=
ENST00000447102.7:c.492C>T ENSP00000403536.2:p.Gly164=
ENST00000591788.2:c.177C>T ENSP00000466341.2:p.Gly59=
NM_000156.5:c.492C>T NP_000147.1:p.Gly164=
NM_138924.2:c.492C>T NP_620279.1:p.Gly164=
NM_000156.6:c.492C>T MANE Select NP_000147.1:p.Gly164=
NM_138924.3:c.492C>T NP_620279.1:p.Gly164=
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