Canonical Allele Identifier: CA10486669
Gene: PSMD10 HGNC NCBI

Linked Data

ClinVar Variation Id: 3220423
ClinVar RCV Id: RCV004513333
dbSNP Id: rs754719421
ExAC: X:107328303 T / G
gnomAD v2: X-107328303-T-G
gnomAD v3: X-108085073-T-G
gnomAD v4: X-108085073-T-G
MyVariant Identifiers: chrX:g.107328303T>G (hg19) chrX:g.108085073T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108085073T>G , CM000685.2:g.108085073T>G GRCh38
NC_000023.10:g.107328303T>G , CM000685.1:g.107328303T>G GRCh37
NC_000023.9:g.107214959T>G NCBI36
NG_012521.1:g.11546A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000217958.8:c.582A>C MANE Select ENSP00000217958.3:p.Gln194His
ENST00000217958.7:c.582A>C ENSP00000217958.3:p.Gln194His
ENST00000340200.5:c.483A>C ENSP00000345963.5:p.Gln161His
ENST00000361815.9:c.*47A>C ENSP00000354906.5:n.*47A>C
ENST00000372295.5:c.459A>C ENSP00000361369.1:p.Gln153His
ENST00000372296.5:c.*47A>C ENSP00000361370.1:n.*47A>C
NM_002814.3:c.582A>C NP_002805.1:p.Gln194His
NM_170750.2:c.*47A>C NP_736606.1:n.*47A>C
NM_002814.4:c.582A>C MANE Select NP_002805.1:p.Gln194His
NM_170750.3:c.*47A>C NP_736606.1:n.*47A>C
Search 100 bp 5'
Search 100 bp 3'