Canonical Allele Identifier: CA400805635
Gene: PSMD12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.67350336C>T , CM000679.2:g.67350336C>T GRCh38
NC_000017.10:g.65346452C>T , CM000679.1:g.65346452C>T GRCh37
NC_000017.9:g.62776914C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356126.8:c.298G>A MANE Select ENSP00000348442.3:p.Ala100Thr
ENST00000356126.7:c.298G>A ENSP00000348442.3:p.Ala100Thr
ENST00000357146.4:c.238G>A ENSP00000349667.4:p.Ala80Thr
ENST00000579365.5:c.*348G>A ENSP00000463017.1:n.*348G>A
ENST00000581618.1:n.535G>A
ENST00000584008.5:c.*453G>A ENSP00000462525.1:n.*453G>A
ENST00000584289.5:n.347G>A
NM_001316341.1:c.121G>A NP_001303270.1:p.Ala41Thr
NM_002816.3:c.298G>A NP_002807.1:p.Ala100Thr
NM_002816.4:c.298G>A NP_002807.1:p.Ala100Thr
NM_174871.2:c.238G>A NP_777360.1:p.Ala80Thr
NM_174871.3:c.238G>A NP_777360.1:p.Ala80Thr
XM_011525048.1:c.121G>A XP_011523350.1:p.Ala41Thr
XM_011525049.1:c.121G>A XP_011523351.1:p.Ala41Thr
XM_011525050.1:c.298G>A XP_011523352.1:p.Ala100Thr
XM_024450842.1:c.385G>A XP_024306610.1:p.Ala129Thr
XM_024450843.1:c.121G>A XP_024306611.1:p.Ala41Thr
XR_001752571.2:n.377G>A
NM_002816.5:c.298G>A MANE Select NP_002807.1:p.Ala100Thr
NM_001316341.2:c.121G>A NP_001303270.1:p.Ala41Thr
NM_174871.4:c.238G>A NP_777360.1:p.Ala80Thr