Canonical Allele Identifier: CA400805525

Gene: PSMD12

Linked Data

• MyVariant Identifiers: chr17:g.65346406A>C (hg19) ; chr17:g.67350290A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350290A>C , CM000679.2:g.67350290A>C	GRCh38
NC_000017.10:g.65346406A>C , CM000679.1:g.65346406A>C	GRCh37
NC_000017.9:g.62776868A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.344T>G MANE Select	ENSP00000348442.3:p.Ile115Ser
ENST00000356126.7:c.344T>G	ENSP00000348442.3:p.Ile115Ser
ENST00000357146.4:c.284T>G	ENSP00000349667.4:p.Ile95Ser
ENST00000581618.1:n.581T>G
ENST00000584008.5:c.*499T>G	ENSP00000462525.1:n.*499T>G
ENST00000584289.5:n.393T>G
NM_001316341.1:c.167T>G	NP_001303270.1:p.Ile56Ser
NM_002816.3:c.344T>G	NP_002807.1:p.Ile115Ser
NM_002816.4:c.344T>G	NP_002807.1:p.Ile115Ser
NM_174871.2:c.284T>G	NP_777360.1:p.Ile95Ser
NM_174871.3:c.284T>G	NP_777360.1:p.Ile95Ser
XM_011525048.1:c.167T>G	XP_011523350.1:p.Ile56Ser
XM_011525049.1:c.167T>G	XP_011523351.1:p.Ile56Ser
XM_011525050.1:c.344T>G	XP_011523352.1:p.Ile115Ser
XM_024450842.1:c.431T>G	XP_024306610.1:p.Ile144Ser
XM_024450843.1:c.167T>G	XP_024306611.1:p.Ile56Ser
XR_001752571.2:n.423T>G
NM_002816.5:c.344T>G MANE Select	NP_002807.1:p.Ile115Ser
NM_001316341.2:c.167T>G	NP_001303270.1:p.Ile56Ser
NM_174871.4:c.284T>G	NP_777360.1:p.Ile95Ser