Canonical Allele Identifier: CA501597058
Gene: PSMD12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.65336967G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.67340851G>A , CM000679.2:g.67340851G>A GRCh38
NC_000017.10:g.65336967G>A , CM000679.1:g.65336967G>A GRCh37
NC_000017.9:g.62767429G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356126.8:c.1363C>T MANE Select ENSP00000348442.3:p.Leu455=
ENST00000356126.7:c.1363C>T ENSP00000348442.3:p.Leu455=
ENST00000357146.4:c.1303C>T ENSP00000349667.4:p.Leu435=
ENST00000584008.5:c.*1518C>T ENSP00000462525.1:n.*1518C>T
NM_001316341.1:c.1186C>T NP_001303270.1:p.Leu396=
NM_002816.3:c.1363C>T NP_002807.1:p.Leu455=
NM_002816.4:c.1363C>T NP_002807.1:p.Leu455=
NM_174871.2:c.1303C>T NP_777360.1:p.Leu435=
NM_174871.3:c.1303C>T NP_777360.1:p.Leu435=
XM_011525048.1:c.1186C>T XP_011523350.1:p.Leu396=
XM_011525049.1:c.1186C>T XP_011523351.1:p.Leu396=
XM_024450842.1:c.1450C>T XP_024306610.1:p.Leu484=
XM_024450843.1:c.1186C>T XP_024306611.1:p.Leu396=
XR_001752571.2:n.1474C>T
NM_002816.5:c.1363C>T MANE Select NP_002807.1:p.Leu455=
NM_001316341.2:c.1186C>T NP_001303270.1:p.Leu396=
NM_174871.4:c.1303C>T NP_777360.1:p.Leu435=