Canonical Allele Identifier: CA412074503

Gene: ALG12

Linked Data

• dbSNP Id: rs2060561593
• gnomAD v3: 22-49909247-C-G
• gnomAD v4: 22-49909247-C-G
• MyVariant Identifiers: chr22:g.50302895C>G (hg19) ; chr22:g.49909247C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49909247C>G , CM000684.2:g.49909247C>G	GRCh38
NC_000022.10:g.50302895C>G , CM000684.1:g.50302895C>G	GRCh37
NC_000022.9:g.48688899C>G	NCBI36
NG_008927.1:g.14212G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000330817.11:c.765G>C MANE Select	ENSP00000333813.5:p.Trp255Cys
ENST00000330817.10:c.765G>C	ENSP00000333813.5:p.Trp255Cys
ENST00000492791.1:c.296G>C
NM_024105.3:c.765G>C	NP_077010.1:p.Trp255Cys
XM_011530369.1:c.765G>C	XP_011528671.1:p.Trp255Cys
XM_011530370.1:c.765G>C	XP_011528672.1:p.Trp255Cys
XM_011530371.1:c.765G>C	XP_011528673.1:p.Trp255Cys
XM_011530371.2:c.765G>C	XP_011528673.1:p.Trp255Cys
XM_017028936.1:c.765G>C	XP_016884425.1:p.Trp255Cys
XM_017028937.1:c.765G>C	XP_016884426.1:p.Trp255Cys
NM_024105.4:c.765G>C MANE Select	NP_077010.1:p.Trp255Cys