Canonical Allele Identifier: CA643631635

Gene: PSMD10

Linked Data

• dbSNP Id: rs1359398683
• gnomAD v2: X-107327935-C-G
• gnomAD v3: X-108084705-C-G
• gnomAD v4: X-108084705-C-G
• MyVariant Identifiers: chrX:g.107327935C>G (hg19) ; chrX:g.108084705C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108084705C>G , CM000685.2:g.108084705C>G	GRCh38
NC_000023.10:g.107327935C>G , CM000685.1:g.107327935C>G	GRCh37
NC_000023.9:g.107214591C>G	NCBI36
NG_012521.1:g.11914G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217958.8:c.*269G>C MANE Select	ENSP00000217958.3:n.*269G>C
ENST00000217958.7:c.*269G>C	ENSP00000217958.3:n.*269G>C
ENST00000372296.5:c.*415G>C	ENSP00000361370.1:n.*415G>C
NM_002814.3:c.*269G>C	NP_002805.1:n.*269G>C
NM_170750.2:c.*415G>C	NP_736606.1:n.*415G>C
NM_002814.4:c.*269G>C MANE Select	NP_002805.1:n.*269G>C
NM_170750.3:c.*415G>C	NP_736606.1:n.*415G>C