Canonical Allele Identifier: CA501602490
Gene: PSMD12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.65346351T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.67350235T>C , CM000679.2:g.67350235T>C GRCh38
NC_000017.10:g.65346351T>C , CM000679.1:g.65346351T>C GRCh37
NC_000017.9:g.62776813T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356126.8:c.399A>G MANE Select ENSP00000348442.3:p.Glu133=
ENST00000356126.7:c.399A>G ENSP00000348442.3:p.Glu133=
ENST00000357146.4:c.339A>G ENSP00000349667.4:p.Glu113=
ENST00000584008.5:c.*554A>G ENSP00000462525.1:n.*554A>G
ENST00000584289.5:n.448A>G
NM_001316341.1:c.222A>G NP_001303270.1:p.Glu74=
NM_002816.3:c.399A>G NP_002807.1:p.Glu133=
NM_002816.4:c.399A>G NP_002807.1:p.Glu133=
NM_174871.2:c.339A>G NP_777360.1:p.Glu113=
NM_174871.3:c.339A>G NP_777360.1:p.Glu113=
XM_011525048.1:c.222A>G XP_011523350.1:p.Glu74=
XM_011525049.1:c.222A>G XP_011523351.1:p.Glu74=
XM_011525050.1:c.399A>G XP_011523352.1:p.Glu133=
XM_024450842.1:c.486A>G XP_024306610.1:p.Glu162=
XM_024450843.1:c.222A>G XP_024306611.1:p.Glu74=
XR_001752571.2:n.478A>G
NM_002816.5:c.399A>G MANE Select NP_002807.1:p.Glu133=
NM_001316341.2:c.222A>G NP_001303270.1:p.Glu74=
NM_174871.4:c.339A>G NP_777360.1:p.Glu113=