Canonical Allele Identifier: CA2525936756
Gene: PSMD12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.67350467A>G , CM000679.2:g.67350467A>G GRCh38
NC_000017.10:g.65346583A>G , CM000679.1:g.65346583A>G GRCh37
NC_000017.9:g.62777045A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356126.8:c.298-131T>C MANE Select ENSP00000348442.3:n.298-131T>C
ENST00000356126.7:c.298-131T>C ENSP00000348442.3:n.298-131T>C
ENST00000357146.4:c.238-131T>C ENSP00000349667.4:n.238-131T>C
ENST00000579365.5:c.*348-131T>C ENSP00000463017.1:n.*348-131T>C
ENST00000581618.1:n.535-131T>C
ENST00000584008.5:c.*453-131T>C ENSP00000462525.1:n.*453-131T>C
ENST00000584289.5:n.347-131T>C
NM_001316341.1:c.121-131T>C NP_001303270.1:n.121-131T>C
NM_002816.3:c.298-131T>C NP_002807.1:n.298-131T>C
NM_002816.4:c.298-131T>C NP_002807.1:n.298-131T>C
NM_174871.2:c.238-131T>C NP_777360.1:n.238-131T>C
NM_174871.3:c.238-131T>C NP_777360.1:n.238-131T>C
XM_011525048.1:c.121-131T>C XP_011523350.1:n.121-131T>C
XM_011525049.1:c.121-131T>C XP_011523351.1:n.121-131T>C
XM_011525050.1:c.298-131T>C XP_011523352.1:n.298-131T>C
XM_024450842.1:c.385-131T>C XP_024306610.1:n.385-131T>C
XM_024450843.1:c.121-131T>C XP_024306611.1:n.121-131T>C
XR_001752571.2:n.377-131T>C
NM_002816.5:c.298-131T>C MANE Select NP_002807.1:n.298-131T>C
NM_001316341.2:c.121-131T>C NP_001303270.1:n.121-131T>C
NM_174871.4:c.238-131T>C NP_777360.1:n.238-131T>C