Canonical Allele Identifier: CA501602560

Gene: PSMD12

Linked Data

• MyVariant Identifiers: chr17:g.65346450A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350334A>T , CM000679.2:g.67350334A>T	GRCh38
NC_000017.10:g.65346450A>T , CM000679.1:g.65346450A>T	GRCh37
NC_000017.9:g.62776912A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.300T>A MANE Select	ENSP00000348442.3:p.Ala100=
ENST00000356126.7:c.300T>A	ENSP00000348442.3:p.Ala100=
ENST00000357146.4:c.240T>A	ENSP00000349667.4:p.Ala80=
ENST00000579365.5:c.*350T>A	ENSP00000463017.1:n.*350T>A
ENST00000581618.1:n.537T>A
ENST00000584008.5:c.*455T>A	ENSP00000462525.1:n.*455T>A
ENST00000584289.5:n.349T>A
NM_001316341.1:c.123T>A	NP_001303270.1:p.Ala41=
NM_002816.3:c.300T>A	NP_002807.1:p.Ala100=
NM_002816.4:c.300T>A	NP_002807.1:p.Ala100=
NM_174871.2:c.240T>A	NP_777360.1:p.Ala80=
NM_174871.3:c.240T>A	NP_777360.1:p.Ala80=
XM_011525048.1:c.123T>A	XP_011523350.1:p.Ala41=
XM_011525049.1:c.123T>A	XP_011523351.1:p.Ala41=
XM_011525050.1:c.300T>A	XP_011523352.1:p.Ala100=
XM_024450842.1:c.387T>A	XP_024306610.1:p.Ala129=
XM_024450843.1:c.123T>A	XP_024306611.1:p.Ala41=
XR_001752571.2:n.379T>A
NM_002816.5:c.300T>A MANE Select	NP_002807.1:p.Ala100=
NM_001316341.2:c.123T>A	NP_001303270.1:p.Ala41=
NM_174871.4:c.240T>A	NP_777360.1:p.Ala80=