Canonical Allele Identifier: CA400805553

Gene: PSMD12

Linked Data

• ClinVar Variation Id: 2691850
• ClinVar RCV Id: RCV003494047
• MyVariant Identifiers: chr17:g.65346417A>T (hg19) ; chr17:g.67350301A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350301A>T , CM000679.2:g.67350301A>T	GRCh38
NC_000017.10:g.65346417A>T , CM000679.1:g.65346417A>T	GRCh37
NC_000017.9:g.62776879A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.333T>A MANE Select	ENSP00000348442.3:p.Tyr111Ter
ENST00000356126.7:c.333T>A	ENSP00000348442.3:p.Tyr111Ter
ENST00000357146.4:c.273T>A	ENSP00000349667.4:p.Tyr91Ter
ENST00000579365.5:c.*383T>A	ENSP00000463017.1:n.*383T>A
ENST00000581618.1:n.570T>A
ENST00000584008.5:c.*488T>A	ENSP00000462525.1:n.*488T>A
ENST00000584289.5:n.382T>A
NM_001316341.1:c.156T>A	NP_001303270.1:p.Tyr52Ter
NM_002816.3:c.333T>A	NP_002807.1:p.Tyr111Ter
NM_002816.4:c.333T>A	NP_002807.1:p.Tyr111Ter
NM_174871.2:c.273T>A	NP_777360.1:p.Tyr91Ter
NM_174871.3:c.273T>A	NP_777360.1:p.Tyr91Ter
XM_011525048.1:c.156T>A	XP_011523350.1:p.Tyr52Ter
XM_011525049.1:c.156T>A	XP_011523351.1:p.Tyr52Ter
XM_011525050.1:c.333T>A	XP_011523352.1:p.Tyr111Ter
XM_024450842.1:c.420T>A	XP_024306610.1:p.Tyr140Ter
XM_024450843.1:c.156T>A	XP_024306611.1:p.Tyr52Ter
XR_001752571.2:n.412T>A
NM_002816.5:c.333T>A MANE Select	NP_002807.1:p.Tyr111Ter
NM_001316341.2:c.156T>A	NP_001303270.1:p.Tyr52Ter
NM_174871.4:c.273T>A	NP_777360.1:p.Tyr91Ter