Canonical Allele Identifier: CA504895207
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 588400
ClinVar RCV Id: RCV001464882 RCV002314491
dbSNP Id: rs1454250040
gnomAD v3: 19-1399021-G-A
gnomAD v4: 19-1399021-G-A
COSMIC: COSM1390841 COSM1390842
MyVariant Identifiers: chr19:g.1399020G>A (hg19) chr19:g.1399021G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399021G>A , CM000681.2:g.1399021G>A GRCh38
NC_000019.9:g.1399020G>A , CM000681.1:g.1399020G>A GRCh37
NC_000019.8:g.1350020G>A NCBI36
NG_009785.1:g.7533C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.465C>T MANE Select ENSP00000252288.1:p.His155=
ENST00000447102.8:c.465C>T ENSP00000403536.2:p.His155=
ENST00000591788.3:c.148C>T
ENST00000640164.1:n.298C>T
ENST00000640762.1:c.396C>T ENSP00000492031.1:p.His132=
ENST00000252288.6:c.465C>T ENSP00000252288.1:p.His155=
ENST00000447102.7:c.465C>T ENSP00000403536.2:p.His155=
ENST00000591788.2:c.150C>T ENSP00000466341.2:p.His50=
NM_000156.5:c.465C>T NP_000147.1:p.His155=
NM_138924.2:c.465C>T NP_620279.1:p.His155=
NM_000156.6:c.465C>T MANE Select NP_000147.1:p.His155=
NM_138924.3:c.465C>T NP_620279.1:p.His155=
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