Canonical Allele Identifier: CA400805511

Gene: PSMD12

Linked Data

• dbSNP Id: rs1416789554
• gnomAD v2: 17-65346399-G-T
• gnomAD v4: 17-67350283-G-T
• MyVariant Identifiers: chr17:g.65346399G>T (hg19) ; chr17:g.67350283G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350283G>T , CM000679.2:g.67350283G>T	GRCh38
NC_000017.10:g.65346399G>T , CM000679.1:g.65346399G>T	GRCh37
NC_000017.9:g.62776861G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.351C>A MANE Select	ENSP00000348442.3:p.Asp117Glu
ENST00000356126.7:c.351C>A	ENSP00000348442.3:p.Asp117Glu
ENST00000357146.4:c.291C>A	ENSP00000349667.4:p.Asp97Glu
ENST00000581618.1:n.588C>A
ENST00000584008.5:c.*506C>A	ENSP00000462525.1:n.*506C>A
ENST00000584289.5:n.400C>A
NM_001316341.1:c.174C>A	NP_001303270.1:p.Asp58Glu
NM_002816.3:c.351C>A	NP_002807.1:p.Asp117Glu
NM_002816.4:c.351C>A	NP_002807.1:p.Asp117Glu
NM_174871.2:c.291C>A	NP_777360.1:p.Asp97Glu
NM_174871.3:c.291C>A	NP_777360.1:p.Asp97Glu
XM_011525048.1:c.174C>A	XP_011523350.1:p.Asp58Glu
XM_011525049.1:c.174C>A	XP_011523351.1:p.Asp58Glu
XM_011525050.1:c.351C>A	XP_011523352.1:p.Asp117Glu
XM_024450842.1:c.438C>A	XP_024306610.1:p.Asp146Glu
XM_024450843.1:c.174C>A	XP_024306611.1:p.Asp58Glu
XR_001752571.2:n.430C>A
NM_002816.5:c.351C>A MANE Select	NP_002807.1:p.Asp117Glu
NM_001316341.2:c.174C>A	NP_001303270.1:p.Asp58Glu
NM_174871.4:c.291C>A	NP_777360.1:p.Asp97Glu