Canonical Allele Identifier: CA333053404

Gene: PSMD10

Linked Data

• dbSNP Id: rs779517811
• gnomAD v2: X-107328330-C-T
• gnomAD v3: X-108085100-C-T
• gnomAD v4: X-108085100-C-T
• MyVariant Identifiers: chrX:g.107328330C>T (hg19) ; chrX:g.108085100C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108085100C>T , CM000685.2:g.108085100C>T	GRCh38
NC_000023.10:g.107328330C>T , CM000685.1:g.107328330C>T	GRCh37
NC_000023.9:g.107214986C>T	NCBI36
NG_012521.1:g.11519G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217958.8:c.555G>A MANE Select	ENSP00000217958.3:p.Val185=
ENST00000217958.7:c.555G>A	ENSP00000217958.3:p.Val185=
ENST00000340200.5:c.456G>A	ENSP00000345963.5:p.Val152=
ENST00000361815.9:c.*20G>A	ENSP00000354906.5:n.*20G>A
ENST00000372295.5:c.432G>A	ENSP00000361369.1:p.Val144=
ENST00000372296.5:c.*20G>A	ENSP00000361370.1:n.*20G>A
NM_002814.3:c.555G>A	NP_002805.1:p.Val185=
NM_170750.2:c.*20G>A	NP_736606.1:n.*20G>A
NM_002814.4:c.555G>A MANE Select	NP_002805.1:p.Val185=
NM_170750.3:c.*20G>A	NP_736606.1:n.*20G>A