Canonical Allele Identifier: CA402994707

Gene: GAMT

Linked Data

• dbSNP Id: rs750195151
• gnomAD v2: 19-1399012-C-G
• gnomAD v4: 19-1399013-C-G
• MyVariant Identifiers: chr19:g.1399012C>G (hg19) ; chr19:g.1399013C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399013C>G , CM000681.2:g.1399013C>G	GRCh38
NC_000019.9:g.1399012C>G , CM000681.1:g.1399012C>G	GRCh37
NC_000019.8:g.1350012C>G	NCBI36
NG_009785.1:g.7541G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.473G>C MANE Select	ENSP00000252288.1:p.Arg158Pro
ENST00000447102.8:c.473G>C	ENSP00000403536.2:p.Arg158Pro
ENST00000591788.3:c.156G>C
ENST00000640164.1:n.306G>C
ENST00000640762.1:c.404G>C	ENSP00000492031.1:p.Arg135Pro
ENST00000252288.6:c.473G>C	ENSP00000252288.1:p.Arg158Pro
ENST00000447102.7:c.473G>C	ENSP00000403536.2:p.Arg158Pro
ENST00000591788.2:c.158G>C	ENSP00000466341.2:p.Arg53Pro
NM_000156.5:c.473G>C	NP_000147.1:p.Arg158Pro
NM_138924.2:c.473G>C	NP_620279.1:p.Arg158Pro
NM_000156.6:c.473G>C MANE Select	NP_000147.1:p.Arg158Pro
NM_138924.3:c.473G>C	NP_620279.1:p.Arg158Pro