Canonical Allele Identifier: CA9043610
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 640879
ClinVar RCV Id: RCV000794003 RCV002343655 RCV001585712 RCV001830699 RCV003918271
dbSNP Id: rs199678332
ExAC: 19:1398910 C / T
gnomAD v2: 19-1398910-C-T
gnomAD v3: 19-1398911-C-T
gnomAD v4: 19-1398911-C-T
COSMIC: COSM1207897 COSM1207898
MyVariant Identifiers: chr19:g.1398910C>T (hg19) chr19:g.1398911C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398911C>T , CM000681.2:g.1398911C>T GRCh38
NC_000019.9:g.1398910C>T , CM000681.1:g.1398910C>T GRCh37
NC_000019.8:g.1349910C>T NCBI36
NG_009785.1:g.7643G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.570+5G>A MANE Select ENSP00000252288.1:n.570+5G>A
ENST00000447102.8:c.575G>A ENSP00000403536.2:p.Arg192His
ENST00000591788.3:c.253+5G>A
ENST00000640164.1:n.403+5G>A
ENST00000640762.1:c.501+5G>A ENSP00000492031.1:n.501+5G>A
ENST00000252288.6:c.570+5G>A ENSP00000252288.1:n.570+5G>A
ENST00000447102.7:c.575G>A ENSP00000403536.2:p.Arg192His
ENST00000591788.2:c.255+5G>A ENSP00000466341.2:n.255+5G>A
NM_000156.5:c.570+5G>A NP_000147.1:n.570+5G>A
NM_138924.2:c.575G>A NP_620279.1:p.Arg192His
NM_000156.6:c.570+5G>A MANE Select NP_000147.1:n.570+5G>A
NM_138924.3:c.575G>A NP_620279.1:p.Arg192His
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