Canonical Allele Identifier: CA412905485

Gene: OTUD5

Linked Data

• ClinVar Variation Id: 487794
• ClinVar RCV Id: RCV000577860
• dbSNP Id: rs1295653938
• MyVariant Identifiers: chrX:g.48780465G>T (hg19) ; chrX:g.48923188G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48923188G>T , CM000685.2:g.48923188G>T	GRCh38
NC_000023.10:g.48780465G>T , CM000685.1:g.48780465G>T	GRCh37
NC_000023.9:g.48665409G>T	NCBI36
NG_016262.1:g.949C>A
NG_016262.2:g.949C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376488.8:c.1687C>A MANE Select	ENSP00000365671.3:p.Pro563Thr
ENST00000156084.8:c.1702C>A	ENSP00000156084.4:p.Pro568Thr
ENST00000376488.7:c.1687C>A	ENSP00000365671.3:p.Pro563Thr
ENST00000396743.7:c.1687C>A	ENSP00000379969.3:p.Pro563Thr
ENST00000428668.2:c.1036C>A	ENSP00000401629.2:p.Pro346Thr
ENST00000455452.5:c.1321C>A	ENSP00000390767.1:p.Pro441Thr
ENST00000610466.4:c.1615C>A	ENSP00000481335.1:p.Pro539Thr
NM_001136157.1:c.1687C>A	NP_001129629.1:p.Pro563Thr
NM_001136158.1:c.1687C>A	NP_001129630.1:p.Pro563Thr
NM_001136159.1:c.1036C>A	NP_001129631.1:p.Pro346Thr
NM_017602.3:c.1702C>A	NP_060072.1:p.Pro568Thr
XM_005272622.3:c.1690C>A	XP_005272679.1:p.Pro564Thr
XM_005278039.3:c.1705C>A	XP_005278096.1:p.Pro569Thr
XM_005278042.3:c.1054C>A	XP_005278099.1:p.Pro352Thr
XM_006724537.2:c.1702C>A	XP_006724600.1:p.Pro568Thr
XM_011543932.1:c.1705C>A	XP_011542234.1:p.Pro569Thr
XM_011543933.1:c.1054C>A	XP_011542235.1:p.Pro352Thr
XM_011543934.1:c.991C>A	XP_011542236.1:p.Pro331Thr
XM_005272622.4:c.1690C>A	XP_005272679.1:p.Pro564Thr
XM_005278039.4:c.1705C>A	XP_005278096.1:p.Pro569Thr
XM_005278042.4:c.1054C>A	XP_005278099.1:p.Pro352Thr
XM_006724537.3:c.1702C>A	XP_006724600.1:p.Pro568Thr
XM_011543932.2:c.1705C>A	XP_011542234.1:p.Pro569Thr
XM_011543934.2:c.991C>A	XP_011542236.1:p.Pro331Thr
XM_017029628.2:c.1690C>A	XP_016885117.1:p.Pro564Thr
XM_017029629.1:c.1054C>A	XP_016885118.1:p.Pro352Thr
XM_017029630.1:c.1051C>A	XP_016885119.1:p.Pro351Thr
XM_024452396.1:c.1039C>A	XP_024308164.1:p.Pro347Thr
XM_024452397.1:c.1036C>A	XP_024308165.1:p.Pro346Thr
NM_001136157.2:c.1687C>A MANE Select	NP_001129629.1:p.Pro563Thr
NM_001136159.2:c.1036C>A	NP_001129631.1:p.Pro346Thr
NM_017602.4:c.1702C>A	NP_060072.1:p.Pro568Thr
NM_001136158.2:c.1687C>A	NP_001129630.1:p.Pro563Thr