Canonical Allele Identifier: CA400805489

Gene: PSMD12

Linked Data

• MyVariant Identifiers: chr17:g.65346388T>C (hg19) ; chr17:g.67350272T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350272T>C , CM000679.2:g.67350272T>C	GRCh38
NC_000017.10:g.65346388T>C , CM000679.1:g.65346388T>C	GRCh37
NC_000017.9:g.62776850T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.362A>G MANE Select	ENSP00000348442.3:p.Lys121Arg
ENST00000356126.7:c.362A>G	ENSP00000348442.3:p.Lys121Arg
ENST00000357146.4:c.302A>G	ENSP00000349667.4:p.Lys101Arg
ENST00000581618.1:n.599A>G
ENST00000584008.5:c.*517A>G	ENSP00000462525.1:n.*517A>G
ENST00000584289.5:n.411A>G
NM_001316341.1:c.185A>G	NP_001303270.1:p.Lys62Arg
NM_002816.3:c.362A>G	NP_002807.1:p.Lys121Arg
NM_002816.4:c.362A>G	NP_002807.1:p.Lys121Arg
NM_174871.2:c.302A>G	NP_777360.1:p.Lys101Arg
NM_174871.3:c.302A>G	NP_777360.1:p.Lys101Arg
XM_011525048.1:c.185A>G	XP_011523350.1:p.Lys62Arg
XM_011525049.1:c.185A>G	XP_011523351.1:p.Lys62Arg
XM_011525050.1:c.362A>G	XP_011523352.1:p.Lys121Arg
XM_024450842.1:c.449A>G	XP_024306610.1:p.Lys150Arg
XM_024450843.1:c.185A>G	XP_024306611.1:p.Lys62Arg
XR_001752571.2:n.441A>G
NM_002816.5:c.362A>G MANE Select	NP_002807.1:p.Lys121Arg
NM_001316341.2:c.185A>G	NP_001303270.1:p.Lys62Arg
NM_174871.4:c.302A>G	NP_777360.1:p.Lys101Arg