Canonical Allele Identifier: CA501602554

Gene: PSMD12

Linked Data

• MyVariant Identifiers: chr17:g.65346444G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350328G>C , CM000679.2:g.67350328G>C	GRCh38
NC_000017.10:g.65346444G>C , CM000679.1:g.65346444G>C	GRCh37
NC_000017.9:g.62776906G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.306C>G MANE Select	ENSP00000348442.3:p.Ala102=
ENST00000356126.7:c.306C>G	ENSP00000348442.3:p.Ala102=
ENST00000357146.4:c.246C>G	ENSP00000349667.4:p.Ala82=
ENST00000579365.5:c.*356C>G	ENSP00000463017.1:n.*356C>G
ENST00000581618.1:n.543C>G
ENST00000584008.5:c.*461C>G	ENSP00000462525.1:n.*461C>G
ENST00000584289.5:n.355C>G
NM_001316341.1:c.129C>G	NP_001303270.1:p.Ala43=
NM_002816.3:c.306C>G	NP_002807.1:p.Ala102=
NM_002816.4:c.306C>G	NP_002807.1:p.Ala102=
NM_174871.2:c.246C>G	NP_777360.1:p.Ala82=
NM_174871.3:c.246C>G	NP_777360.1:p.Ala82=
XM_011525048.1:c.129C>G	XP_011523350.1:p.Ala43=
XM_011525049.1:c.129C>G	XP_011523351.1:p.Ala43=
XM_011525050.1:c.306C>G	XP_011523352.1:p.Ala102=
XM_024450842.1:c.393C>G	XP_024306610.1:p.Ala131=
XM_024450843.1:c.129C>G	XP_024306611.1:p.Ala43=
XR_001752571.2:n.385C>G
NM_002816.5:c.306C>G MANE Select	NP_002807.1:p.Ala102=
NM_001316341.2:c.129C>G	NP_001303270.1:p.Ala43=
NM_174871.4:c.246C>G	NP_777360.1:p.Ala82=