Canonical Allele Identifier: CA400805582

Gene: PSMD12

Linked Data

• gnomAD v4: 17-67350313-C-G
• MyVariant Identifiers: chr17:g.65346429C>G (hg19) ; chr17:g.67350313C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350313C>G , CM000679.2:g.67350313C>G	GRCh38
NC_000017.10:g.65346429C>G , CM000679.1:g.65346429C>G	GRCh37
NC_000017.9:g.62776891C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.321G>C MANE Select	ENSP00000348442.3:p.Gln107His
ENST00000356126.7:c.321G>C	ENSP00000348442.3:p.Gln107His
ENST00000357146.4:c.261G>C	ENSP00000349667.4:p.Gln87His
ENST00000579365.5:c.*371G>C	ENSP00000463017.1:n.*371G>C
ENST00000581618.1:n.558G>C
ENST00000584008.5:c.*476G>C	ENSP00000462525.1:n.*476G>C
ENST00000584289.5:n.370G>C
NM_001316341.1:c.144G>C	NP_001303270.1:p.Gln48His
NM_002816.3:c.321G>C	NP_002807.1:p.Gln107His
NM_002816.4:c.321G>C	NP_002807.1:p.Gln107His
NM_174871.2:c.261G>C	NP_777360.1:p.Gln87His
NM_174871.3:c.261G>C	NP_777360.1:p.Gln87His
XM_011525048.1:c.144G>C	XP_011523350.1:p.Gln48His
XM_011525049.1:c.144G>C	XP_011523351.1:p.Gln48His
XM_011525050.1:c.321G>C	XP_011523352.1:p.Gln107His
XM_024450842.1:c.408G>C	XP_024306610.1:p.Gln136His
XM_024450843.1:c.144G>C	XP_024306611.1:p.Gln48His
XR_001752571.2:n.400G>C
NM_002816.5:c.321G>C MANE Select	NP_002807.1:p.Gln107His
NM_001316341.2:c.144G>C	NP_001303270.1:p.Gln48His
NM_174871.4:c.261G>C	NP_777360.1:p.Gln87His