Canonical Allele Identifier: CA400803080

Gene: PSMD12

Linked Data

• MyVariant Identifiers: chr17:g.65336959T>A (hg19) ; chr17:g.67340843T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67340843T>A , CM000679.2:g.67340843T>A	GRCh38
NC_000017.10:g.65336959T>A , CM000679.1:g.65336959T>A	GRCh37
NC_000017.9:g.62767421T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356126.8:c.1371A>T MANE Select	ENSP00000348442.3:p.Ter457Tyr
ENST00000356126.7:c.1371A>T	ENSP00000348442.3:p.Ter457Tyr
ENST00000357146.4:c.1311A>T	ENSP00000349667.4:p.Ter437Tyr
ENST00000584008.5:c.*1526A>T	ENSP00000462525.1:n.*1526A>T
NM_001316341.1:c.1194A>T	NP_001303270.1:p.Ter398Tyr
NM_002816.3:c.1371A>T	NP_002807.1:p.Ter457Tyr
NM_002816.4:c.1371A>T	NP_002807.1:p.Ter457Tyr
NM_174871.2:c.1311A>T	NP_777360.1:p.Ter437Tyr
NM_174871.3:c.1311A>T	NP_777360.1:p.Ter437Tyr
XM_011525048.1:c.1194A>T	XP_011523350.1:p.Ter398Tyr
XM_011525049.1:c.1194A>T	XP_011523351.1:p.Ter398Tyr
XM_024450842.1:c.1458A>T	XP_024306610.1:p.Ter486Tyr
XM_024450843.1:c.1194A>T	XP_024306611.1:p.Ter398Tyr
XR_001752571.2:n.1482A>T
NM_002816.5:c.1371A>T MANE Select	NP_002807.1:p.Ter457Tyr
NM_001316341.2:c.1194A>T	NP_001303270.1:p.Ter398Tyr
NM_174871.4:c.1311A>T	NP_777360.1:p.Ter437Tyr