Canonical Allele Identifier: CA9043633
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 478015
ClinVar RCV Id: RCV000527209 RCV001834813
dbSNP Id: rs750195151
ExAC: 19:1399012 C / T
gnomAD v2: 19-1399012-C-T
gnomAD v3: 19-1399013-C-T
gnomAD v4: 19-1399013-C-T
COSMIC: COSM1390839 COSM1390840
MyVariant Identifiers: chr19:g.1399012C>T (hg19) chr19:g.1399013C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399013C>T , CM000681.2:g.1399013C>T GRCh38
NC_000019.9:g.1399012C>T , CM000681.1:g.1399012C>T GRCh37
NC_000019.8:g.1350012C>T NCBI36
NG_009785.1:g.7541G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.473G>A MANE Select ENSP00000252288.1:p.Arg158His
ENST00000447102.8:c.473G>A ENSP00000403536.2:p.Arg158His
ENST00000591788.3:c.156G>A
ENST00000640164.1:n.306G>A
ENST00000640762.1:c.404G>A ENSP00000492031.1:p.Arg135His
ENST00000252288.6:c.473G>A ENSP00000252288.1:p.Arg158His
ENST00000447102.7:c.473G>A ENSP00000403536.2:p.Arg158His
ENST00000591788.2:c.158G>A ENSP00000466341.2:p.Arg53His
NM_000156.5:c.473G>A NP_000147.1:p.Arg158His
NM_138924.2:c.473G>A NP_620279.1:p.Arg158His
NM_000156.6:c.473G>A MANE Select NP_000147.1:p.Arg158His
NM_138924.3:c.473G>A NP_620279.1:p.Arg158His
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