Canonical Allele Identifier: CA402995395
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 3064200
ClinVar RCV Id: RCV003988788
MyVariant Identifiers: chr19:g.1399183C>G (hg19) chr19:g.1399184C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399184C>G , CM000681.2:g.1399184C>G GRCh38
NC_000019.9:g.1399183C>G , CM000681.1:g.1399183C>G GRCh37
NC_000019.8:g.1350183C>G NCBI36
NG_009785.1:g.7370G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.403G>C MANE Select ENSP00000252288.1:p.Asp135His
ENST00000447102.8:c.403G>C ENSP00000403536.2:p.Asp135His
ENST00000591788.3:c.86G>C
ENST00000640164.1:n.236G>C
ENST00000640762.1:c.334G>C ENSP00000492031.1:p.Asp112His
ENST00000252288.6:c.403G>C ENSP00000252288.1:p.Asp135His
ENST00000447102.7:c.403G>C ENSP00000403536.2:p.Asp135His
ENST00000591788.2:c.88G>C ENSP00000466341.2:p.Asp30His
NM_000156.5:c.403G>C NP_000147.1:p.Asp135His
NM_138924.2:c.403G>C NP_620279.1:p.Asp135His
NM_000156.6:c.403G>C MANE Select NP_000147.1:p.Asp135His
NM_138924.3:c.403G>C NP_620279.1:p.Asp135His
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