Canonical Allele Identifier: CA9043636

Gene: GAMT

Linked Data

• ClinVar Variation Id: 650133
• ClinVar RCV Id: RCV000805230 ; RCV001275203
• dbSNP Id: rs751570656
• ExAC: 19:1399015 A / C
• gnomAD v2: 19-1399015-A-C
• gnomAD v3: 19-1399016-A-C
• gnomAD v4: 19-1399016-A-C
• MyVariant Identifiers: chr19:g.1399015A>C (hg19) ; chr19:g.1399016A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399016A>C , CM000681.2:g.1399016A>C	GRCh38
NC_000019.9:g.1399015A>C , CM000681.1:g.1399015A>C	GRCh37
NC_000019.8:g.1350015A>C	NCBI36
NG_009785.1:g.7538T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.470T>G MANE Select	ENSP00000252288.1:p.Phe157Cys
ENST00000447102.8:c.470T>G	ENSP00000403536.2:p.Phe157Cys
ENST00000591788.3:c.153T>G
ENST00000640164.1:n.303T>G
ENST00000640762.1:c.401T>G	ENSP00000492031.1:p.Phe134Cys
ENST00000252288.6:c.470T>G	ENSP00000252288.1:p.Phe157Cys
ENST00000447102.7:c.470T>G	ENSP00000403536.2:p.Phe157Cys
ENST00000591788.2:c.155T>G	ENSP00000466341.2:p.Phe52Cys
NM_000156.5:c.470T>G	NP_000147.1:p.Phe157Cys
NM_138924.2:c.470T>G	NP_620279.1:p.Phe157Cys
NM_000156.6:c.470T>G MANE Select	NP_000147.1:p.Phe157Cys
NM_138924.3:c.470T>G	NP_620279.1:p.Phe157Cys