Canonical Allele Identifier: CA9043800

Gene: GAMT

Linked Data

• ClinVar Variation Id: 2060345
• ClinVar RCV Id: RCV002947644
• dbSNP Id: rs200339910
• ExAC: 19:1401345 C / T
• gnomAD v2: 19-1401345-C-T
• gnomAD v3: 19-1401346-C-T
• gnomAD v4: 19-1401346-C-T
• MyVariant Identifiers: chr19:g.1401345C>T (hg19) ; chr19:g.1401346C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401346C>T , CM000681.2:g.1401346C>T	GRCh38
NC_000019.9:g.1401345C>T , CM000681.1:g.1401345C>T	GRCh37
NC_000019.8:g.1352345C>T	NCBI36
NG_009785.1:g.5208G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.131G>A MANE Select	ENSP00000252288.1:p.Arg44His
ENST00000447102.8:c.131G>A	ENSP00000403536.2:p.Arg44His
ENST00000640762.1:c.112+19G>A	ENSP00000492031.1:n.112+19G>A
ENST00000252288.6:c.131G>A	ENSP00000252288.1:p.Arg44His
ENST00000447102.7:c.131G>A	ENSP00000403536.2:p.Arg44His
NM_000156.5:c.131G>A	NP_000147.1:p.Arg44His
NM_138924.2:c.131G>A	NP_620279.1:p.Arg44His
NM_000156.6:c.131G>A MANE Select	NP_000147.1:p.Arg44His
NM_138924.3:c.131G>A	NP_620279.1:p.Arg44His