Canonical Allele Identifier: CA402994732

Gene: GAMT

Linked Data

• dbSNP Id: rs1406290821
• MyVariant Identifiers: chr19:g.1399016A>G (hg19) ; chr19:g.1399017A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399017A>G , CM000681.2:g.1399017A>G	GRCh38
NC_000019.9:g.1399016A>G , CM000681.1:g.1399016A>G	GRCh37
NC_000019.8:g.1350016A>G	NCBI36
NG_009785.1:g.7537T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.469T>C MANE Select	ENSP00000252288.1:p.Phe157Leu
ENST00000447102.8:c.469T>C	ENSP00000403536.2:p.Phe157Leu
ENST00000591788.3:c.152T>C
ENST00000640164.1:n.302T>C
ENST00000640762.1:c.400T>C	ENSP00000492031.1:p.Phe134Leu
ENST00000252288.6:c.469T>C	ENSP00000252288.1:p.Phe157Leu
ENST00000447102.7:c.469T>C	ENSP00000403536.2:p.Phe157Leu
ENST00000591788.2:c.154T>C	ENSP00000466341.2:p.Phe52Leu
NM_000156.5:c.469T>C	NP_000147.1:p.Phe157Leu
NM_138924.2:c.469T>C	NP_620279.1:p.Phe157Leu
NM_000156.6:c.469T>C MANE Select	NP_000147.1:p.Phe157Leu
NM_138924.3:c.469T>C	NP_620279.1:p.Phe157Leu