Canonical Allele Identifier: CA1947214116
Community Standard Title: NM_021924.5(CDHR5):c.2105G= (p.Cys702=)
Gene: CDHR5 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_021924.5:c.2105G= MANE Select NP_068743.3:p.Cys702=
ENST00000397542.7:c.2105G= MANE Select ENSP00000380676.2:p.Cys702=
NM_001171968.2:c.2087G= NP_001165439.2:p.Cys696=
NM_001171968.3:c.2087G= NP_001165439.2:p.Cys696=
NM_031264.4:c.1523G= NP_112554.3:p.Cys508=
NM_031264.5:c.1523G= NP_112554.3:p.Cys508=
ENST00000349570.11:c.1523G= ENSP00000345726.7:p.Cys508=
ENST00000358353.7:c.2105G= ENSP00000351118.3:p.Cys702=
ENST00000358353.8:c.2087G= ENSP00000351118.4:p.Cys696=
ENST00000397542.6:c.2105G= ENSP00000380676.2:p.Cys702=
ENST00000531177.5:c.*1937G= ENSP00000437255.1:n.*1937G=
ENST00000674088.1:c.2105G= ENSP00000501074.1:p.Cys702=
XM_006718253.2:c.1865G= XP_006718316.1:p.Cys622=
XM_006718253.3:c.1865G= XP_006718316.1:p.Cys622=
XM_011520188.1:c.1772G= XP_011518490.1:p.Cys591=
XM_011520188.2:c.1772G= XP_011518490.1:p.Cys591=
XM_011520189.1:c.1679G= XP_011518491.1:p.Cys560=
XM_011520189.2:c.1679G= XP_011518491.1:p.Cys560=
XM_011520190.1:c.1438G= XP_011518492.1:p.Val480=
XM_011520190.2:c.1438G= XP_011518492.1:p.Val480=
XM_011520191.1:c.1379-197G= XP_011518493.1:n.1379-197G=
XM_011520191.2:c.1379-197G= XP_011518493.1:n.1379-197G=