Canonical Allele Identifier: CA504731732
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 800088
ClinVar RCV Id: RCV000983723
dbSNP Id: rs775018136
gnomAD v2: 19-1401434-C-T
gnomAD v4: 19-1401435-C-T
MyVariant Identifiers: chr19:g.1401434C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401435C>T , CM000681.2:g.1401435C>T GRCh38
NC_000019.9:g.1401434C>T , CM000681.1:g.1401434C>T GRCh37
NC_000019.8:g.1352434C>T NCBI36
NG_009785.1:g.5119G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.42G>A MANE Select ENSP00000252288.1:p.Glu14=
ENST00000447102.8:c.42G>A ENSP00000403536.2:p.Glu14=
ENST00000640762.1:c.42G>A ENSP00000492031.1:p.Glu14=
ENST00000252288.6:c.42G>A ENSP00000252288.1:p.Glu14=
ENST00000447102.7:c.42G>A ENSP00000403536.2:p.Glu14=
NM_000156.5:c.42G>A NP_000147.1:p.Glu14=
NM_138924.2:c.42G>A NP_620279.1:p.Glu14=
NM_000156.6:c.42G>A MANE Select NP_000147.1:p.Glu14=
NM_138924.3:c.42G>A NP_620279.1:p.Glu14=
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