Canonical Allele Identifier: CA251349
Gene: UNC80 HGNC NCBI

Linked Data

ClinVar Variation Id: 219189
dbSNP Id: rs200659479

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.209813719C>T , CM000664.2:g.209813719C>T GRCh38
NC_000002.11:g.210678443C>T , CM000664.1:g.210678443C>T GRCh37
NC_000002.10:g.210386688C>T NCBI36
NG_051361.1:g.46795C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673920.1:c.1078C>T MANE Select ENSP00000501211.1:p.Arg360Ter
ENST00000673951.1:c.1078C>T ENSP00000501012.1:p.Arg360Ter
ENST00000272845.10:c.1078C>T ENSP00000272845.5:p.Arg360Ter
ENST00000439458.5:c.1078C>T ENSP00000391088.1:p.Arg360Ter
NM_032504.1:c.1078C>T NP_115893.1:p.Arg360Ter
NM_182587.3:c.1078C>T NP_872393.3:p.Arg360Ter
XM_005246476.1:c.1078C>T XP_005246533.1:p.Arg360Ter
XM_011511004.1:c.1078C>T XP_011509306.1:p.Arg360Ter
XM_011511005.1:c.1078C>T XP_011509307.1:p.Arg360Ter
XM_011511006.1:c.1078C>T XP_011509308.1:p.Arg360Ter
XM_011511007.1:c.1078C>T XP_011509309.1:p.Arg360Ter
XM_011511008.1:c.1078C>T XP_011509310.1:p.Arg360Ter
XM_011511009.1:c.1078C>T XP_011509311.1:p.Arg360Ter
XM_011511010.1:c.1078C>T XP_011509312.1:p.Arg360Ter
XM_011511011.1:c.1078C>T XP_011509313.1:p.Arg360Ter
XM_011511012.1:c.1078C>T XP_011509314.1:p.Arg360Ter
XM_011511010.2:c.1078C>T XP_011509312.1:p.Arg360Ter
XM_017003884.1:c.1078C>T XP_016859373.1:p.Arg360Ter
XM_017003885.1:c.1078C>T XP_016859374.1:p.Arg360Ter
XM_017003886.1:c.1078C>T XP_016859375.1:p.Arg360Ter
XM_017003887.1:c.1078C>T XP_016859376.1:p.Arg360Ter
XM_017003888.1:c.1078C>T XP_016859377.1:p.Arg360Ter
XM_017003889.1:c.1078C>T XP_016859378.1:p.Arg360Ter
XM_017003890.1:c.1078C>T XP_016859379.1:p.Arg360Ter
XM_017003891.1:c.724C>T XP_016859380.1:p.Arg242Ter
XM_017003893.1:c.1078C>T XP_016859382.1:p.Arg360Ter
XR_002959283.1:n.1158C>T
NM_001371986.1:c.1078C>T MANE Select NP_001358915.1:p.Arg360Ter
NM_182587.4:c.1078C>T NP_872393.3:p.Arg360Ter
NM_032504.2:c.1078C>T NP_115893.1:p.Arg360Ter