Canonical Allele Identifier: CA400805565

Gene: PSMD12

Linked Data

• MyVariant Identifiers: chr17:g.65346423A>C (hg19) ; chr17:g.67350307A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350307A>C , CM000679.2:g.67350307A>C	GRCh38
NC_000017.10:g.65346423A>C , CM000679.1:g.65346423A>C	GRCh37
NC_000017.9:g.62776885A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.327T>G MANE Select	ENSP00000348442.3:p.Cys109Trp
ENST00000356126.7:c.327T>G	ENSP00000348442.3:p.Cys109Trp
ENST00000357146.4:c.267T>G	ENSP00000349667.4:p.Cys89Trp
ENST00000579365.5:c.*377T>G	ENSP00000463017.1:n.*377T>G
ENST00000581618.1:n.564T>G
ENST00000584008.5:c.*482T>G	ENSP00000462525.1:n.*482T>G
ENST00000584289.5:n.376T>G
NM_001316341.1:c.150T>G	NP_001303270.1:p.Cys50Trp
NM_002816.3:c.327T>G	NP_002807.1:p.Cys109Trp
NM_002816.4:c.327T>G	NP_002807.1:p.Cys109Trp
NM_174871.2:c.267T>G	NP_777360.1:p.Cys89Trp
NM_174871.3:c.267T>G	NP_777360.1:p.Cys89Trp
XM_011525048.1:c.150T>G	XP_011523350.1:p.Cys50Trp
XM_011525049.1:c.150T>G	XP_011523351.1:p.Cys50Trp
XM_011525050.1:c.327T>G	XP_011523352.1:p.Cys109Trp
XM_024450842.1:c.414T>G	XP_024306610.1:p.Cys138Trp
XM_024450843.1:c.150T>G	XP_024306611.1:p.Cys50Trp
XR_001752571.2:n.406T>G
NM_002816.5:c.327T>G MANE Select	NP_002807.1:p.Cys109Trp
NM_001316341.2:c.150T>G	NP_001303270.1:p.Cys50Trp
NM_174871.4:c.267T>G	NP_777360.1:p.Cys89Trp