Canonical Allele Identifier: CA16617420
Gene: UNC80 HGNC NCBI

Linked Data

ClinVar Variation Id: 424333
ClinVar RCV Id: RCV000486717
dbSNP Id: rs1064796916

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.209941467G>A , CM000664.2:g.209941467G>A GRCh38
NC_000002.11:g.210806191G>A , CM000664.1:g.210806191G>A GRCh37
NC_000002.10:g.210514436G>A NCBI36
NG_051361.1:g.174543G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673920.1:c.6893G>A MANE Select ENSP00000501211.1:p.Trp2298Ter
ENST00000673951.1:c.6689G>A ENSP00000501012.1:p.Trp2230Ter
ENST00000272845.10:c.6680G>A ENSP00000272845.5:p.Trp2227Ter
ENST00000439458.5:c.6695G>A ENSP00000391088.1:p.Trp2232Ter
ENST00000489023.5:n.4220G>A
NM_032504.1:c.6695G>A NP_115893.1:p.Trp2232Ter
NM_182587.3:c.6680G>A NP_872393.3:p.Trp2227Ter
XM_005246476.1:c.6890G>A XP_005246533.1:p.Trp2297Ter
XM_011511004.1:c.6935G>A XP_011509306.1:p.Trp2312Ter
XM_011511005.1:c.6932G>A XP_011509307.1:p.Trp2311Ter
XM_011511006.1:c.6929G>A XP_011509308.1:p.Trp2310Ter
XM_011511007.1:c.6899G>A XP_011509309.1:p.Trp2300Ter
XM_011511008.1:c.6935G>A XP_011509310.1:p.Trp2312Ter
XM_011511009.1:c.6935G>A XP_011509311.1:p.Trp2312Ter
XM_011511010.1:c.6935G>A XP_011509312.1:p.Trp2312Ter
XM_011511011.1:c.6935G>A XP_011509313.1:p.Trp2312Ter
XM_011511010.2:c.6935G>A XP_011509312.1:p.Trp2312Ter
XM_017003884.1:c.6920G>A XP_016859373.1:p.Trp2307Ter
XM_017003885.1:c.6893G>A XP_016859374.1:p.Trp2298Ter
XM_017003886.1:c.6935G>A XP_016859375.1:p.Trp2312Ter
XM_017003887.1:c.6731G>A XP_016859376.1:p.Trp2244Ter
XM_017003888.1:c.6689G>A XP_016859377.1:p.Trp2230Ter
XM_017003889.1:c.6686G>A XP_016859378.1:p.Trp2229Ter
XM_017003890.1:c.6674G>A XP_016859379.1:p.Trp2225Ter
XM_017003891.1:c.6581G>A XP_016859380.1:p.Trp2194Ter
XM_017003892.1:c.4418G>A XP_016859381.1:p.Trp1473Ter
XM_017003894.1:c.3119G>A XP_016859383.1:p.Trp1040Ter
XR_002959283.1:n.7015G>A
NM_001371986.1:c.6893G>A MANE Select NP_001358915.1:p.Trp2298Ter
NM_182587.4:c.6680G>A NP_872393.3:p.Trp2227Ter
NM_032504.2:c.6695G>A NP_115893.1:p.Trp2232Ter