Canonical Allele Identifier: CA400805405

Gene: PSMD12

Linked Data

• MyVariant Identifiers: chr17:g.65346349C>T (hg19) ; chr17:g.67350233C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350233C>T , CM000679.2:g.67350233C>T	GRCh38
NC_000017.10:g.65346349C>T , CM000679.1:g.65346349C>T	GRCh37
NC_000017.9:g.62776811C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.401G>A MANE Select	ENSP00000348442.3:p.Gly134Asp
ENST00000356126.7:c.401G>A	ENSP00000348442.3:p.Gly134Asp
ENST00000357146.4:c.341G>A	ENSP00000349667.4:p.Gly114Asp
ENST00000584008.5:c.*556G>A	ENSP00000462525.1:n.*556G>A
ENST00000584289.5:n.450G>A
NM_001316341.1:c.224G>A	NP_001303270.1:p.Gly75Asp
NM_002816.3:c.401G>A	NP_002807.1:p.Gly134Asp
NM_002816.4:c.401G>A	NP_002807.1:p.Gly134Asp
NM_174871.2:c.341G>A	NP_777360.1:p.Gly114Asp
NM_174871.3:c.341G>A	NP_777360.1:p.Gly114Asp
XM_011525048.1:c.224G>A	XP_011523350.1:p.Gly75Asp
XM_011525049.1:c.224G>A	XP_011523351.1:p.Gly75Asp
XM_011525050.1:c.401G>A	XP_011523352.1:p.Gly134Asp
XM_024450842.1:c.488G>A	XP_024306610.1:p.Gly163Asp
XM_024450843.1:c.224G>A	XP_024306611.1:p.Gly75Asp
XR_001752571.2:n.480G>A
NM_002816.5:c.401G>A MANE Select	NP_002807.1:p.Gly134Asp
NM_001316341.2:c.224G>A	NP_001303270.1:p.Gly75Asp
NM_174871.4:c.341G>A	NP_777360.1:p.Gly114Asp