Canonical Allele Identifier: CA501602540
Gene: PSMD12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.65346414A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.67350298A>T , CM000679.2:g.67350298A>T GRCh38
NC_000017.10:g.65346414A>T , CM000679.1:g.65346414A>T GRCh37
NC_000017.9:g.62776876A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356126.8:c.336T>A MANE Select ENSP00000348442.3:p.Val112=
ENST00000356126.7:c.336T>A ENSP00000348442.3:p.Val112=
ENST00000357146.4:c.276T>A ENSP00000349667.4:p.Val92=
ENST00000581618.1:n.573T>A
ENST00000584008.5:c.*491T>A ENSP00000462525.1:n.*491T>A
ENST00000584289.5:n.385T>A
NM_001316341.1:c.159T>A NP_001303270.1:p.Val53=
NM_002816.3:c.336T>A NP_002807.1:p.Val112=
NM_002816.4:c.336T>A NP_002807.1:p.Val112=
NM_174871.2:c.276T>A NP_777360.1:p.Val92=
NM_174871.3:c.276T>A NP_777360.1:p.Val92=
XM_011525048.1:c.159T>A XP_011523350.1:p.Val53=
XM_011525049.1:c.159T>A XP_011523351.1:p.Val53=
XM_011525050.1:c.336T>A XP_011523352.1:p.Val112=
XM_024450842.1:c.423T>A XP_024306610.1:p.Val141=
XM_024450843.1:c.159T>A XP_024306611.1:p.Val53=
XR_001752571.2:n.415T>A
NM_002816.5:c.336T>A MANE Select NP_002807.1:p.Val112=
NM_001316341.2:c.159T>A NP_001303270.1:p.Val53=
NM_174871.4:c.276T>A NP_777360.1:p.Val92=