Canonical Allele Identifier: CA501602536

Gene: PSMD12

Linked Data

• gnomAD v4: 17-67350295-C-T
• MyVariant Identifiers: chr17:g.65346411C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350295C>T , CM000679.2:g.67350295C>T	GRCh38
NC_000017.10:g.65346411C>T , CM000679.1:g.65346411C>T	GRCh37
NC_000017.9:g.62776873C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.339G>A MANE Select	ENSP00000348442.3:p.Glu113=
ENST00000356126.7:c.339G>A	ENSP00000348442.3:p.Glu113=
ENST00000357146.4:c.279G>A	ENSP00000349667.4:p.Glu93=
ENST00000581618.1:n.576G>A
ENST00000584008.5:c.*494G>A	ENSP00000462525.1:n.*494G>A
ENST00000584289.5:n.388G>A
NM_001316341.1:c.162G>A	NP_001303270.1:p.Glu54=
NM_002816.3:c.339G>A	NP_002807.1:p.Glu113=
NM_002816.4:c.339G>A	NP_002807.1:p.Glu113=
NM_174871.2:c.279G>A	NP_777360.1:p.Glu93=
NM_174871.3:c.279G>A	NP_777360.1:p.Glu93=
XM_011525048.1:c.162G>A	XP_011523350.1:p.Glu54=
XM_011525049.1:c.162G>A	XP_011523351.1:p.Glu54=
XM_011525050.1:c.339G>A	XP_011523352.1:p.Glu113=
XM_024450842.1:c.426G>A	XP_024306610.1:p.Glu142=
XM_024450843.1:c.162G>A	XP_024306611.1:p.Glu54=
XR_001752571.2:n.418G>A
NM_002816.5:c.339G>A MANE Select	NP_002807.1:p.Glu113=
NM_001316341.2:c.162G>A	NP_001303270.1:p.Glu54=
NM_174871.4:c.279G>A	NP_777360.1:p.Glu93=