Canonical Allele Identifier: CA400805620

Gene: PSMD12

Linked Data

• gnomAD v4: 17-67350329-G-A
• MyVariant Identifiers: chr17:g.65346445G>A (hg19) ; chr17:g.67350329G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350329G>A , CM000679.2:g.67350329G>A	GRCh38
NC_000017.10:g.65346445G>A , CM000679.1:g.65346445G>A	GRCh37
NC_000017.9:g.62776907G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.305C>T MANE Select	ENSP00000348442.3:p.Ala102Val
ENST00000356126.7:c.305C>T	ENSP00000348442.3:p.Ala102Val
ENST00000357146.4:c.245C>T	ENSP00000349667.4:p.Ala82Val
ENST00000579365.5:c.*355C>T	ENSP00000463017.1:n.*355C>T
ENST00000581618.1:n.542C>T
ENST00000584008.5:c.*460C>T	ENSP00000462525.1:n.*460C>T
ENST00000584289.5:n.354C>T
NM_001316341.1:c.128C>T	NP_001303270.1:p.Ala43Val
NM_002816.3:c.305C>T	NP_002807.1:p.Ala102Val
NM_002816.4:c.305C>T	NP_002807.1:p.Ala102Val
NM_174871.2:c.245C>T	NP_777360.1:p.Ala82Val
NM_174871.3:c.245C>T	NP_777360.1:p.Ala82Val
XM_011525048.1:c.128C>T	XP_011523350.1:p.Ala43Val
XM_011525049.1:c.128C>T	XP_011523351.1:p.Ala43Val
XM_011525050.1:c.305C>T	XP_011523352.1:p.Ala102Val
XM_024450842.1:c.392C>T	XP_024306610.1:p.Ala131Val
XM_024450843.1:c.128C>T	XP_024306611.1:p.Ala43Val
XR_001752571.2:n.384C>T
NM_002816.5:c.305C>T MANE Select	NP_002807.1:p.Ala102Val
NM_001316341.2:c.128C>T	NP_001303270.1:p.Ala43Val
NM_174871.4:c.245C>T	NP_777360.1:p.Ala82Val