Canonical Allele Identifier: CA400805630

Gene: PSMD12

Linked Data

• ClinVar Variation Id: 2683747
• ClinVar RCV Id: RCV003482193
• COSMIC: COSM3521162
• MyVariant Identifiers: chr17:g.65346451G>A (hg19) ; chr17:g.67350335G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350335G>A , CM000679.2:g.67350335G>A	GRCh38
NC_000017.10:g.65346451G>A , CM000679.1:g.65346451G>A	GRCh37
NC_000017.9:g.62776913G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.299C>T MANE Select	ENSP00000348442.3:p.Ala100Val
ENST00000356126.7:c.299C>T	ENSP00000348442.3:p.Ala100Val
ENST00000357146.4:c.239C>T	ENSP00000349667.4:p.Ala80Val
ENST00000579365.5:c.*349C>T	ENSP00000463017.1:n.*349C>T
ENST00000581618.1:n.536C>T
ENST00000584008.5:c.*454C>T	ENSP00000462525.1:n.*454C>T
ENST00000584289.5:n.348C>T
NM_001316341.1:c.122C>T	NP_001303270.1:p.Ala41Val
NM_002816.3:c.299C>T	NP_002807.1:p.Ala100Val
NM_002816.4:c.299C>T	NP_002807.1:p.Ala100Val
NM_174871.2:c.239C>T	NP_777360.1:p.Ala80Val
NM_174871.3:c.239C>T	NP_777360.1:p.Ala80Val
XM_011525048.1:c.122C>T	XP_011523350.1:p.Ala41Val
XM_011525049.1:c.122C>T	XP_011523351.1:p.Ala41Val
XM_011525050.1:c.299C>T	XP_011523352.1:p.Ala100Val
XM_024450842.1:c.386C>T	XP_024306610.1:p.Ala129Val
XM_024450843.1:c.122C>T	XP_024306611.1:p.Ala41Val
XR_001752571.2:n.378C>T
NM_002816.5:c.299C>T MANE Select	NP_002807.1:p.Ala100Val
NM_001316341.2:c.122C>T	NP_001303270.1:p.Ala41Val
NM_174871.4:c.239C>T	NP_777360.1:p.Ala80Val