Canonical Allele Identifier: CA504895194

Gene: GAMT

Linked Data

• MyVariant Identifiers: chr19:g.1399011G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399012G>C , CM000681.2:g.1399012G>C	GRCh38
NC_000019.9:g.1399011G>C , CM000681.1:g.1399011G>C	GRCh37
NC_000019.8:g.1350011G>C	NCBI36
NG_009785.1:g.7542C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.474C>G MANE Select	ENSP00000252288.1:p.Arg158=
ENST00000447102.8:c.474C>G	ENSP00000403536.2:p.Arg158=
ENST00000591788.3:c.157C>G
ENST00000640164.1:n.307C>G
ENST00000640762.1:c.405C>G	ENSP00000492031.1:p.Arg135=
ENST00000252288.6:c.474C>G	ENSP00000252288.1:p.Arg158=
ENST00000447102.7:c.474C>G	ENSP00000403536.2:p.Arg158=
ENST00000591788.2:c.159C>G	ENSP00000466341.2:p.Arg53=
NM_000156.5:c.474C>G	NP_000147.1:p.Arg158=
NM_138924.2:c.474C>G	NP_620279.1:p.Arg158=
NM_000156.6:c.474C>G MANE Select	NP_000147.1:p.Arg158=
NM_138924.3:c.474C>G	NP_620279.1:p.Arg158=