Canonical Allele Identifier: CA412081394
Gene: ALG12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.49913683C>G , CM000684.2:g.49913683C>G GRCh38
NC_000022.10:g.50307331C>G , CM000684.1:g.50307331C>G GRCh37
NC_000022.9:g.48693335C>G NCBI36
NG_008927.1:g.9776G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330817.11:c.83G>C MANE Select ENSP00000333813.5:p.Cys28Ser
ENST00000330817.10:c.83G>C ENSP00000333813.5:p.Cys28Ser
NM_024105.3:c.83G>C NP_077010.1:p.Cys28Ser
XM_011530369.1:c.83G>C XP_011528671.1:p.Cys28Ser
XM_011530370.1:c.83G>C XP_011528672.1:p.Cys28Ser
XM_011530371.1:c.83G>C XP_011528673.1:p.Cys28Ser
XM_011530371.2:c.83G>C XP_011528673.1:p.Cys28Ser
XM_017028936.1:c.83G>C XP_016884425.1:p.Cys28Ser
XM_017028937.1:c.83G>C XP_016884426.1:p.Cys28Ser
NM_024105.4:c.83G>C MANE Select NP_077010.1:p.Cys28Ser