Canonical Allele Identifier: CA8723778

Gene: PSMD12

Linked Data

• dbSNP Id: rs766369047
• ExAC: 17:65346445 G / C
• gnomAD v2: 17-65346445-G-C
• gnomAD v4: 17-67350329-G-C
• MyVariant Identifiers: chr17:g.65346445G>C (hg19) ; chr17:g.67350329G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350329G>C , CM000679.2:g.67350329G>C	GRCh38
NC_000017.10:g.65346445G>C , CM000679.1:g.65346445G>C	GRCh37
NC_000017.9:g.62776907G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.305C>G MANE Select	ENSP00000348442.3:p.Ala102Gly
ENST00000356126.7:c.305C>G	ENSP00000348442.3:p.Ala102Gly
ENST00000357146.4:c.245C>G	ENSP00000349667.4:p.Ala82Gly
ENST00000579365.5:c.*355C>G	ENSP00000463017.1:n.*355C>G
ENST00000581618.1:n.542C>G
ENST00000584008.5:c.*460C>G	ENSP00000462525.1:n.*460C>G
ENST00000584289.5:n.354C>G
NM_001316341.1:c.128C>G	NP_001303270.1:p.Ala43Gly
NM_002816.3:c.305C>G	NP_002807.1:p.Ala102Gly
NM_002816.4:c.305C>G	NP_002807.1:p.Ala102Gly
NM_174871.2:c.245C>G	NP_777360.1:p.Ala82Gly
NM_174871.3:c.245C>G	NP_777360.1:p.Ala82Gly
XM_011525048.1:c.128C>G	XP_011523350.1:p.Ala43Gly
XM_011525049.1:c.128C>G	XP_011523351.1:p.Ala43Gly
XM_011525050.1:c.305C>G	XP_011523352.1:p.Ala102Gly
XM_024450842.1:c.392C>G	XP_024306610.1:p.Ala131Gly
XM_024450843.1:c.128C>G	XP_024306611.1:p.Ala43Gly
XR_001752571.2:n.384C>G
NM_002816.5:c.305C>G MANE Select	NP_002807.1:p.Ala102Gly
NM_001316341.2:c.128C>G	NP_001303270.1:p.Ala43Gly
NM_174871.4:c.245C>G	NP_777360.1:p.Ala82Gly