Canonical Allele Identifier: CA10389231

Gene: USP9X

Linked Data

• ClinVar Variation Id: 746281
• ClinVar RCV Id: RCV000922881
• dbSNP Id: rs200344642
• ExAC: X:41089792 G / A
• gnomAD v2: X-41089792-G-A
• gnomAD v3: X-41230539-G-A
• gnomAD v4: X-41230539-G-A
• COSMIC: COSM6225882 ; COSM6225883
• MyVariant Identifiers: chrX:g.41089792G>A (hg19) ; chrX:g.41230539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41230539G>A , CM000685.2:g.41230539G>A	GRCh38
NC_000023.10:g.41089792G>A , CM000685.1:g.41089792G>A	GRCh37
NC_000023.9:g.40974736G>A	NCBI36
NG_012547.1:g.149905G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703986.1:c.7485G>A	ENSP00000515603.1:p.Ser2495=
ENST00000703987.1:c.7533G>A	ENSP00000515604.1:p.Ser2511=
ENST00000704649.1:c.3685-1848G>A	ENSP00000515974.1:n.3685-1848G>A
ENST00000704650.1:c.7470G>A	ENSP00000515975.1:p.Ser2490=
ENST00000704651.1:c.7317G>A	ENSP00000515976.1:p.Ser2439=
ENST00000704652.1:c.6569G>A
ENST00000704654.1:c.4349G>A
ENST00000704655.1:c.3613G>A	ENSP00000515980.1:n.3613G>A
ENST00000704656.1:c.2921G>A	ENSP00000515981.1:n.2921G>A
ENST00000324545.9:c.7518G>A	ENSP00000316357.6:p.Ser2506=
ENST00000378308.7:c.7470G>A MANE Select	ENSP00000367558.2:p.Ser2490=
ENST00000324545.8:c.7518G>A	ENSP00000316357.6:p.Ser2506=
ENST00000378308.6:c.7470G>A	ENSP00000367558.2:p.Ser2490=
NM_001039590.2:c.7518G>A	NP_001034679.2:p.Ser2506=
NM_001039591.2:c.7470G>A	NP_001034680.2:p.Ser2490=
XM_005272675.3:c.7533G>A	XP_005272732.1:p.Ser2511=
XM_005272676.3:c.7485G>A	XP_005272733.1:p.Ser2495=
XM_005272675.4:c.7533G>A	XP_005272732.1:p.Ser2511=
XM_005272676.4:c.7485G>A	XP_005272733.1:p.Ser2495=
NM_001039591.3:c.7470G>A MANE Select	NP_001034680.2:p.Ser2490=
NM_001039590.3:c.7518G>A	NP_001034679.2:p.Ser2506=