Canonical Allele Identifier: CA402994716

Gene: GAMT

Linked Data

• MyVariant Identifiers: chr19:g.1399015A>G (hg19) ; chr19:g.1399016A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.470T>C MANE Select	ENSP00000252288.1:p.Phe157Ser
ENST00000447102.8:c.470T>C	ENSP00000403536.2:p.Phe157Ser
ENST00000591788.3:c.153T>C
ENST00000640164.1:n.303T>C
ENST00000640762.1:c.401T>C	ENSP00000492031.1:p.Phe134Ser
ENST00000252288.6:c.470T>C	ENSP00000252288.1:p.Phe157Ser
ENST00000447102.7:c.470T>C	ENSP00000403536.2:p.Phe157Ser
ENST00000591788.2:c.155T>C	ENSP00000466341.2:p.Phe52Ser
NM_000156.5:c.470T>C	NP_000147.1:p.Phe157Ser
NM_138924.2:c.470T>C	NP_620279.1:p.Phe157Ser
NM_000156.6:c.470T>C MANE Select	NP_000147.1:p.Phe157Ser
NM_138924.3:c.470T>C	NP_620279.1:p.Phe157Ser