Canonical Allele Identifier: CA400805493

Gene: PSMD12

Linked Data

• dbSNP Id: rs2042005127
• gnomAD v3: 17-67350273-T-G
• gnomAD v4: 17-67350273-T-G
• MyVariant Identifiers: chr17:g.65346389T>G (hg19) ; chr17:g.67350273T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350273T>G , CM000679.2:g.67350273T>G	GRCh38
NC_000017.10:g.65346389T>G , CM000679.1:g.65346389T>G	GRCh37
NC_000017.9:g.62776851T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.361A>C MANE Select	ENSP00000348442.3:p.Lys121Gln
ENST00000356126.7:c.361A>C	ENSP00000348442.3:p.Lys121Gln
ENST00000357146.4:c.301A>C	ENSP00000349667.4:p.Lys101Gln
ENST00000581618.1:n.598A>C
ENST00000584008.5:c.*516A>C	ENSP00000462525.1:n.*516A>C
ENST00000584289.5:n.410A>C
NM_001316341.1:c.184A>C	NP_001303270.1:p.Lys62Gln
NM_002816.3:c.361A>C	NP_002807.1:p.Lys121Gln
NM_002816.4:c.361A>C	NP_002807.1:p.Lys121Gln
NM_174871.2:c.301A>C	NP_777360.1:p.Lys101Gln
NM_174871.3:c.301A>C	NP_777360.1:p.Lys101Gln
XM_011525048.1:c.184A>C	XP_011523350.1:p.Lys62Gln
XM_011525049.1:c.184A>C	XP_011523351.1:p.Lys62Gln
XM_011525050.1:c.361A>C	XP_011523352.1:p.Lys121Gln
XM_024450842.1:c.448A>C	XP_024306610.1:p.Lys150Gln
XM_024450843.1:c.184A>C	XP_024306611.1:p.Lys62Gln
XR_001752571.2:n.440A>C
NM_002816.5:c.361A>C MANE Select	NP_002807.1:p.Lys121Gln
NM_001316341.2:c.184A>C	NP_001303270.1:p.Lys62Gln
NM_174871.4:c.301A>C	NP_777360.1:p.Lys101Gln