Canonical Allele Identifier: CA501597037
Gene: PSMD12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.65336960T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.67340844T>C , CM000679.2:g.67340844T>C GRCh38
NC_000017.10:g.65336960T>C , CM000679.1:g.65336960T>C GRCh37
NC_000017.9:g.62767422T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356126.8:c.1370A>G MANE Select ENSP00000348442.3:p.Ter457=
ENST00000356126.7:c.1370A>G ENSP00000348442.3:p.Ter457=
ENST00000357146.4:c.1310A>G ENSP00000349667.4:p.Ter437=
ENST00000584008.5:c.*1525A>G ENSP00000462525.1:n.*1525A>G
NM_001316341.1:c.1193A>G NP_001303270.1:p.Ter398=
NM_002816.3:c.1370A>G NP_002807.1:p.Ter457=
NM_002816.4:c.1370A>G NP_002807.1:p.Ter457=
NM_174871.2:c.1310A>G NP_777360.1:p.Ter437=
NM_174871.3:c.1310A>G NP_777360.1:p.Ter437=
XM_011525048.1:c.1193A>G XP_011523350.1:p.Ter398=
XM_011525049.1:c.1193A>G XP_011523351.1:p.Ter398=
XM_024450842.1:c.1457A>G XP_024306610.1:p.Ter486=
XM_024450843.1:c.1193A>G XP_024306611.1:p.Ter398=
XR_001752571.2:n.1481A>G
NM_002816.5:c.1370A>G MANE Select NP_002807.1:p.Ter457=
NM_001316341.2:c.1193A>G NP_001303270.1:p.Ter398=
NM_174871.4:c.1310A>G NP_777360.1:p.Ter437=