Canonical Allele Identifier: CA504730084

Gene: GAMT

Linked Data

• MyVariant Identifiers: chr19:g.1399148T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399149T>G , CM000681.2:g.1399149T>G	GRCh38
NC_000019.9:g.1399148T>G , CM000681.1:g.1399148T>G	GRCh37
NC_000019.8:g.1350148T>G	NCBI36
NG_009785.1:g.7405A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.438A>C MANE Select	ENSP00000252288.1:p.Thr146=
ENST00000447102.8:c.438A>C	ENSP00000403536.2:p.Thr146=
ENST00000591788.3:c.121A>C
ENST00000640164.1:n.271A>C
ENST00000640762.1:c.369A>C	ENSP00000492031.1:p.Thr123=
ENST00000252288.6:c.438A>C	ENSP00000252288.1:p.Thr146=
ENST00000447102.7:c.438A>C	ENSP00000403536.2:p.Thr146=
ENST00000591788.2:c.123A>C	ENSP00000466341.2:p.Thr41=
NM_000156.5:c.438A>C	NP_000147.1:p.Thr146=
NM_138924.2:c.438A>C	NP_620279.1:p.Thr146=
NM_000156.6:c.438A>C MANE Select	NP_000147.1:p.Thr146=
NM_138924.3:c.438A>C	NP_620279.1:p.Thr146=