Canonical Allele Identifier: CA10486670

Gene: PSMD10

Linked Data

• dbSNP Id: rs754719421
• ExAC: X:107328303 T / C
• gnomAD v2: X-107328303-T-C
• gnomAD v3: X-108085073-T-C
• gnomAD v4: X-108085073-T-C
• MyVariant Identifiers: chrX:g.107328303T>C (hg19) ; chrX:g.108085073T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217958.8:c.582A>G MANE Select	ENSP00000217958.3:p.Gln194=
ENST00000217958.7:c.582A>G	ENSP00000217958.3:p.Gln194=
ENST00000340200.5:c.483A>G	ENSP00000345963.5:p.Gln161=
ENST00000361815.9:c.*47A>G	ENSP00000354906.5:n.*47A>G
ENST00000372295.5:c.459A>G	ENSP00000361369.1:p.Gln153=
ENST00000372296.5:c.*47A>G	ENSP00000361370.1:n.*47A>G
NM_002814.3:c.582A>G	NP_002805.1:p.Gln194=
NM_170750.2:c.*47A>G	NP_736606.1:n.*47A>G
NM_002814.4:c.582A>G MANE Select	NP_002805.1:p.Gln194=
NM_170750.3:c.*47A>G	NP_736606.1:n.*47A>G