Canonical Allele Identifier: CA9043635

Gene: GAMT

Linked Data

• ClinVar Variation Id: 517082
• ClinVar RCV Id: RCV000611035 ; RCV000706494
• dbSNP Id: rs372260609
• ExAC: 19:1399014 A / C
• gnomAD v2: 19-1399014-A-C
• gnomAD v3: 19-1399015-A-C
• gnomAD v4: 19-1399015-A-C
• MyVariant Identifiers: chr19:g.1399014A>C (hg19) ; chr19:g.1399015A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399015A>C , CM000681.2:g.1399015A>C	GRCh38
NC_000019.9:g.1399014A>C , CM000681.1:g.1399014A>C	GRCh37
NC_000019.8:g.1350014A>C	NCBI36
NG_009785.1:g.7539T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.471T>G MANE Select	ENSP00000252288.1:p.Phe157Leu
ENST00000447102.8:c.471T>G	ENSP00000403536.2:p.Phe157Leu
ENST00000591788.3:c.154T>G
ENST00000640164.1:n.304T>G
ENST00000640762.1:c.402T>G	ENSP00000492031.1:p.Phe134Leu
ENST00000252288.6:c.471T>G	ENSP00000252288.1:p.Phe157Leu
ENST00000447102.7:c.471T>G	ENSP00000403536.2:p.Phe157Leu
ENST00000591788.2:c.156T>G	ENSP00000466341.2:p.Phe52Leu
NM_000156.5:c.471T>G	NP_000147.1:p.Phe157Leu
NM_138924.2:c.471T>G	NP_620279.1:p.Phe157Leu
NM_000156.6:c.471T>G MANE Select	NP_000147.1:p.Phe157Leu
NM_138924.3:c.471T>G	NP_620279.1:p.Phe157Leu