Canonical Allele Identifier: CA412080670
Gene: ALG12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.49913617T>A , CM000684.2:g.49913617T>A GRCh38
NC_000022.10:g.50307265T>A , CM000684.1:g.50307265T>A GRCh37
NC_000022.9:g.48693269T>A NCBI36
NG_008927.1:g.9842A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330817.11:c.149A>T MANE Select ENSP00000333813.5:p.Gln50Leu
ENST00000330817.10:c.149A>T ENSP00000333813.5:p.Gln50Leu
NM_024105.3:c.149A>T NP_077010.1:p.Gln50Leu
XM_011530369.1:c.149A>T XP_011528671.1:p.Gln50Leu
XM_011530370.1:c.149A>T XP_011528672.1:p.Gln50Leu
XM_011530371.1:c.149A>T XP_011528673.1:p.Gln50Leu
XM_011530371.2:c.149A>T XP_011528673.1:p.Gln50Leu
XM_017028936.1:c.149A>T XP_016884425.1:p.Gln50Leu
XM_017028937.1:c.149A>T XP_016884426.1:p.Gln50Leu
NM_024105.4:c.149A>T MANE Select NP_077010.1:p.Gln50Leu