Canonical Allele Identifier: CA9043675

Gene: GAMT

Linked Data

• dbSNP Id: rs756178130
• ExAC: 19:1399194 C / G
• gnomAD v2: 19-1399194-C-G
• gnomAD v4: 19-1399195-C-G
• MyVariant Identifiers: chr19:g.1399194C>G (hg19) ; chr19:g.1399195C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399195C>G , CM000681.2:g.1399195C>G	GRCh38
NC_000019.9:g.1399194C>G , CM000681.1:g.1399194C>G	GRCh37
NC_000019.8:g.1350194C>G	NCBI36
NG_009785.1:g.7359G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.392G>C MANE Select	ENSP00000252288.1:p.Gly131Ala
ENST00000447102.8:c.392G>C	ENSP00000403536.2:p.Gly131Ala
ENST00000591788.3:c.75G>C
ENST00000640164.1:n.225G>C
ENST00000640762.1:c.323G>C	ENSP00000492031.1:p.Gly108Ala
ENST00000252288.6:c.392G>C	ENSP00000252288.1:p.Gly131Ala
ENST00000447102.7:c.392G>C	ENSP00000403536.2:p.Gly131Ala
ENST00000591788.2:c.77G>C	ENSP00000466341.2:p.Gly26Ala
NM_000156.5:c.392G>C	NP_000147.1:p.Gly131Ala
NM_138924.2:c.392G>C	NP_620279.1:p.Gly131Ala
NM_000156.6:c.392G>C MANE Select	NP_000147.1:p.Gly131Ala
NM_138924.3:c.392G>C	NP_620279.1:p.Gly131Ala