Canonical Allele Identifier: CA413841778
Gene: PSMD10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2527644
ClinVar RCV Id: RCV004300941
gnomAD v4: X-108085108-C-T
MyVariant Identifiers: chrX:g.107328338C>T (hg19) chrX:g.108085108C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108085108C>T , CM000685.2:g.108085108C>T GRCh38
NC_000023.10:g.107328338C>T , CM000685.1:g.107328338C>T GRCh37
NC_000023.9:g.107214994C>T NCBI36
NG_012521.1:g.11511G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000217958.8:c.547G>A MANE Select ENSP00000217958.3:p.Glu183Lys
ENST00000217958.7:c.547G>A ENSP00000217958.3:p.Glu183Lys
ENST00000340200.5:c.448G>A ENSP00000345963.5:p.Glu150Lys
ENST00000361815.9:c.*12G>A ENSP00000354906.5:n.*12G>A
ENST00000372295.5:c.424G>A ENSP00000361369.1:p.Glu142Lys
ENST00000372296.5:c.*12G>A ENSP00000361370.1:n.*12G>A
NM_002814.3:c.547G>A NP_002805.1:p.Glu183Lys
NM_170750.2:c.*12G>A NP_736606.1:n.*12G>A
NM_002814.4:c.547G>A MANE Select NP_002805.1:p.Glu183Lys
NM_170750.3:c.*12G>A NP_736606.1:n.*12G>A
Search 100 bp 5'
Search 100 bp 3'