Canonical Allele Identifier: CA400805414

Gene: PSMD12

Linked Data

• gnomAD v4: 17-67350237-C-A
• MyVariant Identifiers: chr17:g.65346353C>A (hg19) ; chr17:g.67350237C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350237C>A , CM000679.2:g.67350237C>A	GRCh38
NC_000017.10:g.65346353C>A , CM000679.1:g.65346353C>A	GRCh37
NC_000017.9:g.62776815C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.397G>T MANE Select	ENSP00000348442.3:p.Glu133Ter
ENST00000356126.7:c.397G>T	ENSP00000348442.3:p.Glu133Ter
ENST00000357146.4:c.337G>T	ENSP00000349667.4:p.Glu113Ter
ENST00000584008.5:c.*552G>T	ENSP00000462525.1:n.*552G>T
ENST00000584289.5:n.446G>T
NM_001316341.1:c.220G>T	NP_001303270.1:p.Glu74Ter
NM_002816.3:c.397G>T	NP_002807.1:p.Glu133Ter
NM_002816.4:c.397G>T	NP_002807.1:p.Glu133Ter
NM_174871.2:c.337G>T	NP_777360.1:p.Glu113Ter
NM_174871.3:c.337G>T	NP_777360.1:p.Glu113Ter
XM_011525048.1:c.220G>T	XP_011523350.1:p.Glu74Ter
XM_011525049.1:c.220G>T	XP_011523351.1:p.Glu74Ter
XM_011525050.1:c.397G>T	XP_011523352.1:p.Glu133Ter
XM_024450842.1:c.484G>T	XP_024306610.1:p.Glu162Ter
XM_024450843.1:c.220G>T	XP_024306611.1:p.Glu74Ter
XR_001752571.2:n.476G>T
NM_002816.5:c.397G>T MANE Select	NP_002807.1:p.Glu133Ter
NM_001316341.2:c.220G>T	NP_001303270.1:p.Glu74Ter
NM_174871.4:c.337G>T	NP_777360.1:p.Glu113Ter