Canonical Allele Identifier: CA10300730
Gene: ALG12 HGNC NCBI

Linked Data

ClinVar Variation Id: 1509245
ClinVar RCV Id: RCV002017759
dbSNP Id: rs779888121

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000330817.11:c.133C>A MANE Select ENSP00000333813.5:p.Leu45Met
ENST00000330817.10:c.133C>A ENSP00000333813.5:p.Leu45Met
NM_024105.3:c.133C>A NP_077010.1:p.Leu45Met
XM_011530369.1:c.133C>A XP_011528671.1:p.Leu45Met
XM_011530370.1:c.133C>A XP_011528672.1:p.Leu45Met
XM_011530371.1:c.133C>A XP_011528673.1:p.Leu45Met
XM_011530371.2:c.133C>A XP_011528673.1:p.Leu45Met
XM_017028936.1:c.133C>A XP_016884425.1:p.Leu45Met
XM_017028937.1:c.133C>A XP_016884426.1:p.Leu45Met
NM_024105.4:c.133C>A MANE Select NP_077010.1:p.Leu45Met