Canonical Allele Identifier: CA412074492

Gene: ALG12

Linked Data

• dbSNP Id: rs1569175621
• gnomAD v2: 22-50302890-A-C
• MyVariant Identifiers: chr22:g.50302890A>C (hg19) ; chr22:g.50302890_50302891delinsCC (hg19) ; chr22:g.49909242A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49909242A>C , CM000684.2:g.49909242A>C	GRCh38
NC_000022.10:g.50302890A>C , CM000684.1:g.50302890A>C	GRCh37
NC_000022.9:g.48688894A>C	NCBI36
NG_008927.1:g.14217T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330817.11:c.768+2T>G MANE Select	ENSP00000333813.5:n.768+2T>G
ENST00000330817.10:c.768+2T>G	ENSP00000333813.5:n.768+2T>G
ENST00000492791.1:c.299+2T>G
NM_024105.3:c.768+2T>G	NP_077010.1:n.768+2T>G
XM_011530369.1:c.768+2T>G	XP_011528671.1:n.768+2T>G
XM_011530370.1:c.768+2T>G	XP_011528672.1:n.768+2T>G
XM_011530371.1:c.768+2T>G	XP_011528673.1:n.768+2T>G
XM_011530371.2:c.768+2T>G	XP_011528673.1:n.768+2T>G
XM_017028936.1:c.768+2T>G	XP_016884425.1:n.768+2T>G
XM_017028937.1:c.768+2T>G	XP_016884426.1:n.768+2T>G
NM_024105.4:c.768+2T>G MANE Select	NP_077010.1:n.768+2T>G