Canonical Allele Identifier: CA412080886
Gene: ALG12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.49913633G>C , CM000684.2:g.49913633G>C GRCh38
NC_000022.10:g.50307281G>C , CM000684.1:g.50307281G>C GRCh37
NC_000022.9:g.48693285G>C NCBI36
NG_008927.1:g.9826C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330817.11:c.133C>G MANE Select ENSP00000333813.5:p.Leu45Val
ENST00000330817.10:c.133C>G ENSP00000333813.5:p.Leu45Val
NM_024105.3:c.133C>G NP_077010.1:p.Leu45Val
XM_011530369.1:c.133C>G XP_011528671.1:p.Leu45Val
XM_011530370.1:c.133C>G XP_011528672.1:p.Leu45Val
XM_011530371.1:c.133C>G XP_011528673.1:p.Leu45Val
XM_011530371.2:c.133C>G XP_011528673.1:p.Leu45Val
XM_017028936.1:c.133C>G XP_016884425.1:p.Leu45Val
XM_017028937.1:c.133C>G XP_016884426.1:p.Leu45Val
NM_024105.4:c.133C>G MANE Select NP_077010.1:p.Leu45Val