Canonical Allele Identifier: CA412074501

Gene: ALG12

Linked Data

• dbSNP Id: rs1250314100
• COSMIC: COSM1244831
• MyVariant Identifiers: chr22:g.50302894C>T (hg19) ; chr22:g.49909246C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49909246C>T , CM000684.2:g.49909246C>T	GRCh38
NC_000022.10:g.50302894C>T , CM000684.1:g.50302894C>T	GRCh37
NC_000022.9:g.48688898C>T	NCBI36
NG_008927.1:g.14213G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330817.11:c.766G>A MANE Select	ENSP00000333813.5:p.Gly256Arg
ENST00000330817.10:c.766G>A	ENSP00000333813.5:p.Gly256Arg
ENST00000492791.1:c.297G>A
NM_024105.3:c.766G>A	NP_077010.1:p.Gly256Arg
XM_011530369.1:c.766G>A	XP_011528671.1:p.Gly256Arg
XM_011530370.1:c.766G>A	XP_011528672.1:p.Gly256Arg
XM_011530371.1:c.766G>A	XP_011528673.1:p.Gly256Arg
XM_011530371.2:c.766G>A	XP_011528673.1:p.Gly256Arg
XM_017028936.1:c.766G>A	XP_016884425.1:p.Gly256Arg
XM_017028937.1:c.766G>A	XP_016884426.1:p.Gly256Arg
NM_024105.4:c.766G>A MANE Select	NP_077010.1:p.Gly256Arg