Canonical Allele Identifier: CA400805513

Gene: PSMD12

Linked Data

• MyVariant Identifiers: chr17:g.65346400T>C (hg19) ; chr17:g.67350284T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350284T>C , CM000679.2:g.67350284T>C	GRCh38
NC_000017.10:g.65346400T>C , CM000679.1:g.65346400T>C	GRCh37
NC_000017.9:g.62776862T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.350A>G MANE Select	ENSP00000348442.3:p.Asp117Gly
ENST00000356126.7:c.350A>G	ENSP00000348442.3:p.Asp117Gly
ENST00000357146.4:c.290A>G	ENSP00000349667.4:p.Asp97Gly
ENST00000581618.1:n.587A>G
ENST00000584008.5:c.*505A>G	ENSP00000462525.1:n.*505A>G
ENST00000584289.5:n.399A>G
NM_001316341.1:c.173A>G	NP_001303270.1:p.Asp58Gly
NM_002816.3:c.350A>G	NP_002807.1:p.Asp117Gly
NM_002816.4:c.350A>G	NP_002807.1:p.Asp117Gly
NM_174871.2:c.290A>G	NP_777360.1:p.Asp97Gly
NM_174871.3:c.290A>G	NP_777360.1:p.Asp97Gly
XM_011525048.1:c.173A>G	XP_011523350.1:p.Asp58Gly
XM_011525049.1:c.173A>G	XP_011523351.1:p.Asp58Gly
XM_011525050.1:c.350A>G	XP_011523352.1:p.Asp117Gly
XM_024450842.1:c.437A>G	XP_024306610.1:p.Asp146Gly
XM_024450843.1:c.173A>G	XP_024306611.1:p.Asp58Gly
XR_001752571.2:n.429A>G
NM_002816.5:c.350A>G MANE Select	NP_002807.1:p.Asp117Gly
NM_001316341.2:c.173A>G	NP_001303270.1:p.Asp58Gly
NM_174871.4:c.290A>G	NP_777360.1:p.Asp97Gly