Canonical Allele Identifier: CA501602555

Gene: PSMD12

Linked Data

• gnomAD v4: 17-67350331-A-C
• MyVariant Identifiers: chr17:g.65346447A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350331A>C , CM000679.2:g.67350331A>C	GRCh38
NC_000017.10:g.65346447A>C , CM000679.1:g.65346447A>C	GRCh37
NC_000017.9:g.62776909A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.303T>G MANE Select	ENSP00000348442.3:p.Val101=
ENST00000356126.7:c.303T>G	ENSP00000348442.3:p.Val101=
ENST00000357146.4:c.243T>G	ENSP00000349667.4:p.Val81=
ENST00000579365.5:c.*353T>G	ENSP00000463017.1:n.*353T>G
ENST00000581618.1:n.540T>G
ENST00000584008.5:c.*458T>G	ENSP00000462525.1:n.*458T>G
ENST00000584289.5:n.352T>G
NM_001316341.1:c.126T>G	NP_001303270.1:p.Val42=
NM_002816.3:c.303T>G	NP_002807.1:p.Val101=
NM_002816.4:c.303T>G	NP_002807.1:p.Val101=
NM_174871.2:c.243T>G	NP_777360.1:p.Val81=
NM_174871.3:c.243T>G	NP_777360.1:p.Val81=
XM_011525048.1:c.126T>G	XP_011523350.1:p.Val42=
XM_011525049.1:c.126T>G	XP_011523351.1:p.Val42=
XM_011525050.1:c.303T>G	XP_011523352.1:p.Val101=
XM_024450842.1:c.390T>G	XP_024306610.1:p.Val130=
XM_024450843.1:c.126T>G	XP_024306611.1:p.Val42=
XR_001752571.2:n.382T>G
NM_002816.5:c.303T>G MANE Select	NP_002807.1:p.Val101=
NM_001316341.2:c.126T>G	NP_001303270.1:p.Val42=
NM_174871.4:c.243T>G	NP_777360.1:p.Val81=