Canonical Allele Identifier: CA413841605

Gene: PSMD10

Linked Data

• dbSNP Id: rs1478116168
• gnomAD v2: X-107328263-G-C
• gnomAD v4: X-108085033-G-C
• MyVariant Identifiers: chrX:g.107328263G>C (hg19) ; chrX:g.108085033G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108085033G>C , CM000685.2:g.108085033G>C	GRCh38
NC_000023.10:g.107328263G>C , CM000685.1:g.107328263G>C	GRCh37
NC_000023.9:g.107214919G>C	NCBI36
NG_012521.1:g.11586C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217958.8:c.622C>G MANE Select	ENSP00000217958.3:p.Pro208Ala
ENST00000217958.7:c.622C>G	ENSP00000217958.3:p.Pro208Ala
ENST00000340200.5:c.523C>G	ENSP00000345963.5:p.Pro175Ala
ENST00000361815.9:c.*87C>G	ENSP00000354906.5:n.*87C>G
ENST00000372295.5:c.499C>G	ENSP00000361369.1:p.Pro167Ala
ENST00000372296.5:c.*87C>G	ENSP00000361370.1:n.*87C>G
NM_002814.3:c.622C>G	NP_002805.1:p.Pro208Ala
NM_170750.2:c.*87C>G	NP_736606.1:n.*87C>G
NM_002814.4:c.622C>G MANE Select	NP_002805.1:p.Pro208Ala
NM_170750.3:c.*87C>G	NP_736606.1:n.*87C>G