Canonical Allele Identifier: CA504731625
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1573701
ClinVar RCV Id: RCV002217818
dbSNP Id: rs2082632667
gnomAD v4: 19-1401339-C-T
MyVariant Identifiers: chr19:g.1401338C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401339C>T , CM000681.2:g.1401339C>T GRCh38
NC_000019.9:g.1401338C>T , CM000681.1:g.1401338C>T GRCh37
NC_000019.8:g.1352338C>T NCBI36
NG_009785.1:g.5215G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.138G>A MANE Select ENSP00000252288.1:p.Glu46=
ENST00000447102.8:c.138G>A ENSP00000403536.2:p.Glu46=
ENST00000640762.1:c.112+26G>A ENSP00000492031.1:n.112+26G>A
ENST00000252288.6:c.138G>A ENSP00000252288.1:p.Glu46=
ENST00000447102.7:c.138G>A ENSP00000403536.2:p.Glu46=
NM_000156.5:c.138G>A NP_000147.1:p.Glu46=
NM_138924.2:c.138G>A NP_620279.1:p.Glu46=
NM_000156.6:c.138G>A MANE Select NP_000147.1:p.Glu46=
NM_138924.3:c.138G>A NP_620279.1:p.Glu46=
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