Canonical Allele Identifier: CA2271700418

Gene: PSMD12

Linked Data

• dbSNP Id: rs2042006379
• gnomAD v4: 17-67350385-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350391dup , CM000679.2:g.67350391dup	GRCh38
NC_000017.10:g.65346507dup , CM000679.1:g.65346507dup	GRCh37
NC_000017.9:g.62776969dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.298-50dup MANE Select	ENSP00000348442.3:n.298-50dup
ENST00000356126.7:c.298-50dup	ENSP00000348442.3:n.298-50dup
ENST00000357146.4:c.238-50dup	ENSP00000349667.4:n.238-50dup
ENST00000579365.5:c.*348-50dup	ENSP00000463017.1:n.*348-50dup
ENST00000581618.1:n.535-50dup
ENST00000584008.5:c.*453-50dup	ENSP00000462525.1:n.*453-50dup
ENST00000584289.5:n.347-50dup
NM_001316341.1:c.121-50dup	NP_001303270.1:n.121-50dup
NM_002816.3:c.298-50dup	NP_002807.1:n.298-50dup
NM_002816.4:c.298-50dup	NP_002807.1:n.298-50dup
NM_174871.2:c.238-50dup	NP_777360.1:n.238-50dup
NM_174871.3:c.238-50dup	NP_777360.1:n.238-50dup
XM_011525048.1:c.121-50dup	XP_011523350.1:n.121-50dup
XM_011525049.1:c.121-50dup	XP_011523351.1:n.121-50dup
XM_011525050.1:c.298-50dup	XP_011523352.1:n.298-50dup
XM_024450842.1:c.385-50dup	XP_024306610.1:n.385-50dup
XM_024450843.1:c.121-50dup	XP_024306611.1:n.121-50dup
XR_001752571.2:n.377-50dup
NM_002816.5:c.298-50dup MANE Select	NP_002807.1:n.298-50dup
NM_001316341.2:c.121-50dup	NP_001303270.1:n.121-50dup
NM_174871.4:c.238-50dup	NP_777360.1:n.238-50dup