Canonical Allele Identifier: CA378987305
Gene: CDHR5 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.617967C>T , CM000673.2:g.617967C>T GRCh38
NC_000011.9:g.617967C>T , CM000673.1:g.617967C>T GRCh37
NC_000011.8:g.607967C>T NCBI36
NG_029106.1:g.3033G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358353.8:c.2087G>A ENSP00000351118.4:p.Cys696Tyr
ENST00000397542.7:c.2105G>A MANE Select ENSP00000380676.2:p.Cys702Tyr
ENST00000674088.1:c.2105G>A ENSP00000501074.1:p.Cys702Tyr
ENST00000349570.11:c.1523G>A ENSP00000345726.7:p.Cys508Tyr
ENST00000358353.7:c.2105G>A ENSP00000351118.3:p.Cys702Tyr
ENST00000397542.6:c.2105G>A ENSP00000380676.2:p.Cys702Tyr
ENST00000531177.5:c.*1937G>A ENSP00000437255.1:n.*1937G>A
XM_006718253.2:c.1865G>A XP_006718316.1:p.Cys622Tyr
XM_011520188.1:c.1772G>A XP_011518490.1:p.Cys591Tyr
XM_011520189.1:c.1679G>A XP_011518491.1:p.Cys560Tyr
XM_011520190.1:c.1438G>A XP_011518492.1:p.Val480Met
XM_011520191.1:c.1379-197G>A XP_011518493.1:n.1379-197G>A
XM_006718253.3:c.1865G>A XP_006718316.1:p.Cys622Tyr
XM_011520188.2:c.1772G>A XP_011518490.1:p.Cys591Tyr
XM_011520189.2:c.1679G>A XP_011518491.1:p.Cys560Tyr
XM_011520190.2:c.1438G>A XP_011518492.1:p.Val480Met
XM_011520191.2:c.1379-197G>A XP_011518493.1:n.1379-197G>A
NM_001171968.2:c.2087G>A NP_001165439.2:p.Cys696Tyr
NM_021924.5:c.2105G>A MANE Select NP_068743.3:p.Cys702Tyr
NM_031264.4:c.1523G>A NP_112554.3:p.Cys508Tyr
NM_001171968.3:c.2087G>A NP_001165439.2:p.Cys696Tyr
NM_031264.5:c.1523G>A NP_112554.3:p.Cys508Tyr