Canonical Allele Identifier: CA400805509

Gene: PSMD12

Linked Data

• MyVariant Identifiers: chr17:g.65346398G>T (hg19) ; chr17:g.67350282G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350282G>T , CM000679.2:g.67350282G>T	GRCh38
NC_000017.10:g.65346398G>T , CM000679.1:g.65346398G>T	GRCh37
NC_000017.9:g.62776860G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.352C>A MANE Select	ENSP00000348442.3:p.Leu118Ile
ENST00000356126.7:c.352C>A	ENSP00000348442.3:p.Leu118Ile
ENST00000357146.4:c.292C>A	ENSP00000349667.4:p.Leu98Ile
ENST00000581618.1:n.589C>A
ENST00000584008.5:c.*507C>A	ENSP00000462525.1:n.*507C>A
ENST00000584289.5:n.401C>A
NM_001316341.1:c.175C>A	NP_001303270.1:p.Leu59Ile
NM_002816.3:c.352C>A	NP_002807.1:p.Leu118Ile
NM_002816.4:c.352C>A	NP_002807.1:p.Leu118Ile
NM_174871.2:c.292C>A	NP_777360.1:p.Leu98Ile
NM_174871.3:c.292C>A	NP_777360.1:p.Leu98Ile
XM_011525048.1:c.175C>A	XP_011523350.1:p.Leu59Ile
XM_011525049.1:c.175C>A	XP_011523351.1:p.Leu59Ile
XM_011525050.1:c.352C>A	XP_011523352.1:p.Leu118Ile
XM_024450842.1:c.439C>A	XP_024306610.1:p.Leu147Ile
XM_024450843.1:c.175C>A	XP_024306611.1:p.Leu59Ile
XR_001752571.2:n.431C>A
NM_002816.5:c.352C>A MANE Select	NP_002807.1:p.Leu118Ile
NM_001316341.2:c.175C>A	NP_001303270.1:p.Leu59Ile
NM_174871.4:c.292C>A	NP_777360.1:p.Leu98Ile