Canonical Allele Identifier: CA501602521

Gene: PSMD12

Linked Data

• gnomAD v4: 17-67350274-G-T
• MyVariant Identifiers: chr17:g.65346390G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350274G>T , CM000679.2:g.67350274G>T	GRCh38
NC_000017.10:g.65346390G>T , CM000679.1:g.65346390G>T	GRCh37
NC_000017.9:g.62776852G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.360C>A MANE Select	ENSP00000348442.3:p.Ile120=
ENST00000356126.7:c.360C>A	ENSP00000348442.3:p.Ile120=
ENST00000357146.4:c.300C>A	ENSP00000349667.4:p.Ile100=
ENST00000581618.1:n.597C>A
ENST00000584008.5:c.*515C>A	ENSP00000462525.1:n.*515C>A
ENST00000584289.5:n.409C>A
NM_001316341.1:c.183C>A	NP_001303270.1:p.Ile61=
NM_002816.3:c.360C>A	NP_002807.1:p.Ile120=
NM_002816.4:c.360C>A	NP_002807.1:p.Ile120=
NM_174871.2:c.300C>A	NP_777360.1:p.Ile100=
NM_174871.3:c.300C>A	NP_777360.1:p.Ile100=
XM_011525048.1:c.183C>A	XP_011523350.1:p.Ile61=
XM_011525049.1:c.183C>A	XP_011523351.1:p.Ile61=
XM_011525050.1:c.360C>A	XP_011523352.1:p.Ile120=
XM_024450842.1:c.447C>A	XP_024306610.1:p.Ile149=
XM_024450843.1:c.183C>A	XP_024306611.1:p.Ile61=
XR_001752571.2:n.439C>A
NM_002816.5:c.360C>A MANE Select	NP_002807.1:p.Ile120=
NM_001316341.2:c.183C>A	NP_001303270.1:p.Ile61=
NM_174871.4:c.300C>A	NP_777360.1:p.Ile100=