Canonical Allele Identifier: CA400805478

Gene: PSMD12

Linked Data

• ClinVar Variation Id: 427779
• ClinVar RCV Id: RCV000490796 ; RCV001268777
• dbSNP Id: rs1114167442
• COSMIC: COSM983255
• MyVariant Identifiers: chr17:g.65346383G>A (hg19) ; chr17:g.67350267G>A (hg38)
• PubMed: PMID:28132691

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350267G>A , CM000679.2:g.67350267G>A	GRCh38
NC_000017.10:g.65346383G>A , CM000679.1:g.65346383G>A	GRCh37
NC_000017.9:g.62776845G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356126.8:c.367C>T MANE Select	ENSP00000348442.3:p.Arg123Ter
ENST00000356126.7:c.367C>T	ENSP00000348442.3:p.Arg123Ter
ENST00000357146.4:c.307C>T	ENSP00000349667.4:p.Arg103Ter
ENST00000581618.1:n.604C>T
ENST00000584008.5:c.*522C>T	ENSP00000462525.1:n.*522C>T
ENST00000584289.5:n.416C>T
NM_001316341.1:c.190C>T	NP_001303270.1:p.Arg64Ter
NM_002816.3:c.367C>T	NP_002807.1:p.Arg123Ter
NM_002816.4:c.367C>T	NP_002807.1:p.Arg123Ter
NM_174871.2:c.307C>T	NP_777360.1:p.Arg103Ter
NM_174871.3:c.307C>T	NP_777360.1:p.Arg103Ter
XM_011525048.1:c.190C>T	XP_011523350.1:p.Arg64Ter
XM_011525049.1:c.190C>T	XP_011523351.1:p.Arg64Ter
XM_011525050.1:c.367C>T	XP_011523352.1:p.Arg123Ter
XM_024450842.1:c.454C>T	XP_024306610.1:p.Arg152Ter
XM_024450843.1:c.190C>T	XP_024306611.1:p.Arg64Ter
XR_001752571.2:n.446C>T
NM_002816.5:c.367C>T MANE Select	NP_002807.1:p.Arg123Ter
NM_001316341.2:c.190C>T	NP_001303270.1:p.Arg64Ter
NM_174871.4:c.307C>T	NP_777360.1:p.Arg103Ter