Canonical Allele Identifier: CA412072100
Gene: ALG12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2871879
ClinVar RCV Id: RCV003608460

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.49904234C>G , CM000684.2:g.49904234C>G GRCh38
NC_000022.10:g.50297882C>G , CM000684.1:g.50297882C>G GRCh37
NC_000022.9:g.48683886C>G NCBI36
NG_008927.1:g.19225G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330817.11:c.1183G>C MANE Select ENSP00000333813.5:p.Val395Leu
ENST00000330817.10:c.1183G>C ENSP00000333813.5:p.Val395Leu
ENST00000486602.1:c.389G>C
ENST00000492791.1:c.592G>C
NM_024105.3:c.1183G>C NP_077010.1:p.Val395Leu
XM_011530369.1:c.1183G>C XP_011528671.1:p.Val395Leu
XM_011530370.1:c.1183G>C XP_011528672.1:p.Val395Leu
XM_011530371.1:c.*2G>C XP_011528673.1:n.*2G>C
XM_011530371.2:c.*2G>C XP_011528673.1:n.*2G>C
XM_017028936.1:c.1183G>C XP_016884425.1:p.Val395Leu
XM_017028937.1:c.1183G>C XP_016884426.1:p.Val395Leu
NM_024105.4:c.1183G>C MANE Select NP_077010.1:p.Val395Leu