Canonical Allele Identifier: CA400805622

Gene: PSMD12

Linked Data

• gnomAD v4: 17-67350330-C-T
• MyVariant Identifiers: chr17:g.65346446C>T (hg19) ; chr17:g.67350330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350330C>T , CM000679.2:g.67350330C>T	GRCh38
NC_000017.10:g.65346446C>T , CM000679.1:g.65346446C>T	GRCh37
NC_000017.9:g.62776908C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.304G>A MANE Select	ENSP00000348442.3:p.Ala102Thr
ENST00000356126.7:c.304G>A	ENSP00000348442.3:p.Ala102Thr
ENST00000357146.4:c.244G>A	ENSP00000349667.4:p.Ala82Thr
ENST00000579365.5:c.*354G>A	ENSP00000463017.1:n.*354G>A
ENST00000581618.1:n.541G>A
ENST00000584008.5:c.*459G>A	ENSP00000462525.1:n.*459G>A
ENST00000584289.5:n.353G>A
NM_001316341.1:c.127G>A	NP_001303270.1:p.Ala43Thr
NM_002816.3:c.304G>A	NP_002807.1:p.Ala102Thr
NM_002816.4:c.304G>A	NP_002807.1:p.Ala102Thr
NM_174871.2:c.244G>A	NP_777360.1:p.Ala82Thr
NM_174871.3:c.244G>A	NP_777360.1:p.Ala82Thr
XM_011525048.1:c.127G>A	XP_011523350.1:p.Ala43Thr
XM_011525049.1:c.127G>A	XP_011523351.1:p.Ala43Thr
XM_011525050.1:c.304G>A	XP_011523352.1:p.Ala102Thr
XM_024450842.1:c.391G>A	XP_024306610.1:p.Ala131Thr
XM_024450843.1:c.127G>A	XP_024306611.1:p.Ala43Thr
XR_001752571.2:n.383G>A
NM_002816.5:c.304G>A MANE Select	NP_002807.1:p.Ala102Thr
NM_001316341.2:c.127G>A	NP_001303270.1:p.Ala43Thr
NM_174871.4:c.244G>A	NP_777360.1:p.Ala82Thr