Canonical Allele Identifier: CA400805594

Gene: PSMD12

Linked Data

• ClinVar Variation Id: 620497
• ClinVar RCV Id: RCV000760880
• dbSNP Id: rs1567955779
• MyVariant Identifiers: chr17:g.65346434G>A (hg19) ; chr17:g.67350318G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350318G>A , CM000679.2:g.67350318G>A	GRCh38
NC_000017.10:g.65346434G>A , CM000679.1:g.65346434G>A	GRCh37
NC_000017.9:g.62776896G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.316C>T MANE Select	ENSP00000348442.3:p.Gln106Ter
ENST00000356126.7:c.316C>T	ENSP00000348442.3:p.Gln106Ter
ENST00000357146.4:c.256C>T	ENSP00000349667.4:p.Gln86Ter
ENST00000579365.5:c.*366C>T	ENSP00000463017.1:n.*366C>T
ENST00000581618.1:n.553C>T
ENST00000584008.5:c.*471C>T	ENSP00000462525.1:n.*471C>T
ENST00000584289.5:n.365C>T
NM_001316341.1:c.139C>T	NP_001303270.1:p.Gln47Ter
NM_002816.3:c.316C>T	NP_002807.1:p.Gln106Ter
NM_002816.4:c.316C>T	NP_002807.1:p.Gln106Ter
NM_174871.2:c.256C>T	NP_777360.1:p.Gln86Ter
NM_174871.3:c.256C>T	NP_777360.1:p.Gln86Ter
XM_011525048.1:c.139C>T	XP_011523350.1:p.Gln47Ter
XM_011525049.1:c.139C>T	XP_011523351.1:p.Gln47Ter
XM_011525050.1:c.316C>T	XP_011523352.1:p.Gln106Ter
XM_024450842.1:c.403C>T	XP_024306610.1:p.Gln135Ter
XM_024450843.1:c.139C>T	XP_024306611.1:p.Gln47Ter
XR_001752571.2:n.395C>T
NM_002816.5:c.316C>T MANE Select	NP_002807.1:p.Gln106Ter
NM_001316341.2:c.139C>T	NP_001303270.1:p.Gln47Ter
NM_174871.4:c.256C>T	NP_777360.1:p.Gln86Ter