Canonical Allele Identifier: CA400803090

Gene: PSMD12

Linked Data

• MyVariant Identifiers: chr17:g.65336963T>G (hg19) ; chr17:g.67340847T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67340847T>G , CM000679.2:g.67340847T>G	GRCh38
NC_000017.10:g.65336963T>G , CM000679.1:g.65336963T>G	GRCh37
NC_000017.9:g.62767425T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356126.8:c.1367A>C MANE Select	ENSP00000348442.3:p.Gln456Pro
ENST00000356126.7:c.1367A>C	ENSP00000348442.3:p.Gln456Pro
ENST00000357146.4:c.1307A>C	ENSP00000349667.4:p.Gln436Pro
ENST00000584008.5:c.*1522A>C	ENSP00000462525.1:n.*1522A>C
NM_001316341.1:c.1190A>C	NP_001303270.1:p.Gln397Pro
NM_002816.3:c.1367A>C	NP_002807.1:p.Gln456Pro
NM_002816.4:c.1367A>C	NP_002807.1:p.Gln456Pro
NM_174871.2:c.1307A>C	NP_777360.1:p.Gln436Pro
NM_174871.3:c.1307A>C	NP_777360.1:p.Gln436Pro
XM_011525048.1:c.1190A>C	XP_011523350.1:p.Gln397Pro
XM_011525049.1:c.1190A>C	XP_011523351.1:p.Gln397Pro
XM_024450842.1:c.1454A>C	XP_024306610.1:p.Gln485Pro
XM_024450843.1:c.1190A>C	XP_024306611.1:p.Gln397Pro
XR_001752571.2:n.1478A>C
NM_002816.5:c.1367A>C MANE Select	NP_002807.1:p.Gln456Pro
NM_001316341.2:c.1190A>C	NP_001303270.1:p.Gln397Pro
NM_174871.4:c.1307A>C	NP_777360.1:p.Gln436Pro