Canonical Allele Identifier: CA229623580
Gene: HYOU1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs199962136
MyVariant Identifiers: chr11:g.119052704G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119052704G>A , CM000673.2:g.119052704G>A GRCh38
NC_000011.8:g.118428626G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001130991.2:c.920C>T VV NP_001124463.1:p.Ala307Val
NM_006389.4:c.920C>T VV NP_006380.1:p.Ala307Val
XM_005271392.2:c.920C>T XP_005271449.1:p.Ala307Val
XM_005271393.2:c.920C>T XP_005271450.1:p.Ala307Val
XM_005271394.2:c.920C>T XP_005271451.1:p.Ala307Val
XM_011542557.1:c.1052C>T XP_011540859.1:p.Ala351Val
XM_011542558.1:c.1052C>T XP_011540860.1:p.Ala351Val
XR_947790.1:n.1067C>T
XM_005271392.4:c.920C>T XP_005271449.1:p.Ala307Val
XM_005271393.3:c.920C>T XP_005271450.1:p.Ala307Val
XM_005271394.3:c.920C>T XP_005271451.1:p.Ala307Val
XM_017017095.1:c.920C>T XP_016872584.1:p.Ala307Val
XM_017017096.1:c.920C>T XP_016872585.1:p.Ala307Val
XM_017017097.1:c.920C>T XP_016872586.1:p.Ala307Val
XR_001747729.1:n.1050C>T
XR_002957117.1:n.1050C>T
NM_006389.5:c.920C>T VV MANE Preferred NP_006380.1:p.Ala307Val
ENST00000530473.5:c.920C>T ENSP00000431874.1:p.Ala307Val
ENST00000531694.5:n.2026C>T
ENST00000532519.6:c.920C>T ENSP00000467866.2:p.Ala307Val
ENST00000543287.5:c.*709C>T ENSP00000442727.2:p.=
ENST00000612687.4:c.920C>T ENSP00000483106.1:p.Ala307Val
ENST00000614668.4:c.436+2340C>T ENSP00000482199.1:p.=
ENST00000614711.4:c.920C>T ENSP00000480248.1:p.Ala307Val
ENST00000617285.4:c.920C>T ENSP00000480150.1:p.Ala307Val
ENST00000621959.4:c.920C>T ENSP00000484186.1:p.Ala307Val