Canonical Allele Identifier: CA2657454502
Gene: ALG12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.49913632dup , CM000684.2:g.49913632dup GRCh38
NC_000022.10:g.50307280dup , CM000684.1:g.50307280dup GRCh37
NC_000022.9:g.48693284dup NCBI36
NG_008927.1:g.9827dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000330817.11:c.134dup MANE Select ENSP00000333813.5:p.Leu46AlafsTer14
ENST00000330817.10:c.134dup ENSP00000333813.5:p.Leu46AlafsTer14
NM_024105.3:c.134dup NP_077010.1:p.Leu46AlafsTer14
XM_011530369.1:c.134dup XP_011528671.1:p.Leu46AlafsTer14
XM_011530370.1:c.134dup XP_011528672.1:p.Leu46AlafsTer14
XM_011530371.1:c.134dup XP_011528673.1:p.Leu46AlafsTer14
XM_011530371.2:c.134dup XP_011528673.1:p.Leu46AlafsTer14
XM_017028936.1:c.134dup XP_016884425.1:p.Leu46AlafsTer14
XM_017028937.1:c.134dup XP_016884426.1:p.Leu46AlafsTer14
NM_024105.4:c.134dup MANE Select NP_077010.1:p.Leu46AlafsTer14