Canonical Allele Identifier: CA412080700

Gene: ALG12

Linked Data

• dbSNP Id: rs1373244789
• gnomAD v2: 22-50307267-C-G
• gnomAD v4: 22-49913619-C-G
• MyVariant Identifiers: chr22:g.50307267C>G (hg19) ; chr22:g.49913619C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49913619C>G , CM000684.2:g.49913619C>G	GRCh38
NC_000022.10:g.50307267C>G , CM000684.1:g.50307267C>G	GRCh37
NC_000022.9:g.48693271C>G	NCBI36
NG_008927.1:g.9840G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330817.11:c.147G>C MANE Select	ENSP00000333813.5:p.Trp49Cys
ENST00000330817.10:c.147G>C	ENSP00000333813.5:p.Trp49Cys
NM_024105.3:c.147G>C	NP_077010.1:p.Trp49Cys
XM_011530369.1:c.147G>C	XP_011528671.1:p.Trp49Cys
XM_011530370.1:c.147G>C	XP_011528672.1:p.Trp49Cys
XM_011530371.1:c.147G>C	XP_011528673.1:p.Trp49Cys
XM_011530371.2:c.147G>C	XP_011528673.1:p.Trp49Cys
XM_017028936.1:c.147G>C	XP_016884425.1:p.Trp49Cys
XM_017028937.1:c.147G>C	XP_016884426.1:p.Trp49Cys
NM_024105.4:c.147G>C MANE Select	NP_077010.1:p.Trp49Cys