Canonical Allele Identifier: CA501602523

Gene: PSMD12

Linked Data

• MyVariant Identifiers: chr17:g.65346393A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350277A>G , CM000679.2:g.67350277A>G	GRCh38
NC_000017.10:g.65346393A>G , CM000679.1:g.65346393A>G	GRCh37
NC_000017.9:g.62776855A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.357T>C MANE Select	ENSP00000348442.3:p.Pro119=
ENST00000356126.7:c.357T>C	ENSP00000348442.3:p.Pro119=
ENST00000357146.4:c.297T>C	ENSP00000349667.4:p.Pro99=
ENST00000581618.1:n.594T>C
ENST00000584008.5:c.*512T>C	ENSP00000462525.1:n.*512T>C
ENST00000584289.5:n.406T>C
NM_001316341.1:c.180T>C	NP_001303270.1:p.Pro60=
NM_002816.3:c.357T>C	NP_002807.1:p.Pro119=
NM_002816.4:c.357T>C	NP_002807.1:p.Pro119=
NM_174871.2:c.297T>C	NP_777360.1:p.Pro99=
NM_174871.3:c.297T>C	NP_777360.1:p.Pro99=
XM_011525048.1:c.180T>C	XP_011523350.1:p.Pro60=
XM_011525049.1:c.180T>C	XP_011523351.1:p.Pro60=
XM_011525050.1:c.357T>C	XP_011523352.1:p.Pro119=
XM_024450842.1:c.444T>C	XP_024306610.1:p.Pro148=
XM_024450843.1:c.180T>C	XP_024306611.1:p.Pro60=
XR_001752571.2:n.436T>C
NM_002816.5:c.357T>C MANE Select	NP_002807.1:p.Pro119=
NM_001316341.2:c.180T>C	NP_001303270.1:p.Pro60=
NM_174871.4:c.297T>C	NP_777360.1:p.Pro99=