Canonical Allele Identifier: CA402994766
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 589070
ClinVar RCV Id: RCV002318014 RCV002534582
dbSNP Id: rs1308730662
gnomAD v2: 19-1399021-T-A
gnomAD v4: 19-1399022-T-A
MyVariant Identifiers: chr19:g.1399021T>A (hg19) chr19:g.1399022T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399022T>A , CM000681.2:g.1399022T>A GRCh38
NC_000019.9:g.1399021T>A , CM000681.1:g.1399021T>A GRCh37
NC_000019.8:g.1350021T>A NCBI36
NG_009785.1:g.7532A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.464A>T MANE Select ENSP00000252288.1:p.His155Leu
ENST00000447102.8:c.464A>T ENSP00000403536.2:p.His155Leu
ENST00000591788.3:c.147A>T
ENST00000640164.1:n.297A>T
ENST00000640762.1:c.395A>T ENSP00000492031.1:p.His132Leu
ENST00000252288.6:c.464A>T ENSP00000252288.1:p.His155Leu
ENST00000447102.7:c.464A>T ENSP00000403536.2:p.His155Leu
ENST00000591788.2:c.149A>T ENSP00000466341.2:p.His50Leu
NM_000156.5:c.464A>T NP_000147.1:p.His155Leu
NM_138924.2:c.464A>T NP_620279.1:p.His155Leu
NM_000156.6:c.464A>T MANE Select NP_000147.1:p.His155Leu
NM_138924.3:c.464A>T NP_620279.1:p.His155Leu
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