Canonical Allele Identifier: CA402994121

Gene: GAMT

Linked Data

• MyVariant Identifiers: chr19:g.1398933G>C (hg19) ; chr19:g.1398934G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398934G>C , CM000681.2:g.1398934G>C	GRCh38
NC_000019.9:g.1398933G>C , CM000681.1:g.1398933G>C	GRCh37
NC_000019.8:g.1349933G>C	NCBI36
NG_009785.1:g.7620C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.552C>G MANE Select	ENSP00000252288.1:p.Asp184Glu
ENST00000447102.8:c.552C>G	ENSP00000403536.2:p.Asp184Glu
ENST00000591788.3:c.235C>G
ENST00000640164.1:n.385C>G
ENST00000640762.1:c.483C>G	ENSP00000492031.1:p.Asp161Glu
ENST00000252288.6:c.552C>G	ENSP00000252288.1:p.Asp184Glu
ENST00000447102.7:c.552C>G	ENSP00000403536.2:p.Asp184Glu
ENST00000591788.2:c.237C>G	ENSP00000466341.2:p.Asp79Glu
NM_000156.5:c.552C>G	NP_000147.1:p.Asp184Glu
NM_138924.2:c.552C>G	NP_620279.1:p.Asp184Glu
NM_000156.6:c.552C>G MANE Select	NP_000147.1:p.Asp184Glu
NM_138924.3:c.552C>G	NP_620279.1:p.Asp184Glu