Canonical Allele Identifier: CA10486664

Gene: PSMD10

Linked Data

• dbSNP Id: rs779628491
• ExAC: X:107328230 T / A
• gnomAD v2: X-107328230-T-A
• gnomAD v3: X-108085000-T-A
• gnomAD v4: X-108085000-T-A
• MyVariant Identifiers: chrX:g.107328230T>A (hg19) ; chrX:g.108085000T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108085000T>A , CM000685.2:g.108085000T>A	GRCh38
NC_000023.10:g.107328230T>A , CM000685.1:g.107328230T>A	GRCh37
NC_000023.9:g.107214886T>A	NCBI36
NG_012521.1:g.11619A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217958.8:c.655A>T MANE Select	ENSP00000217958.3:p.Ile219Leu
ENST00000217958.7:c.655A>T	ENSP00000217958.3:p.Ile219Leu
ENST00000340200.5:c.556A>T	ENSP00000345963.5:p.Ile186Leu
ENST00000361815.9:c.*120A>T	ENSP00000354906.5:n.*120A>T
ENST00000372295.5:c.532A>T	ENSP00000361369.1:p.Ile178Leu
ENST00000372296.5:c.*120A>T	ENSP00000361370.1:n.*120A>T
NM_002814.3:c.655A>T	NP_002805.1:p.Ile219Leu
NM_170750.2:c.*120A>T	NP_736606.1:n.*120A>T
NM_002814.4:c.655A>T MANE Select	NP_002805.1:p.Ile219Leu
NM_170750.3:c.*120A>T	NP_736606.1:n.*120A>T