Canonical Allele Identifier: CA368806811
Gene: CDHR3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.106017975G>C , CM000669.2:g.106017975G>C GRCh38
NC_000007.13:g.105658421G>C , CM000669.1:g.105658421G>C GRCh37
NC_000007.12:g.105445657G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000317716.14:c.1556G>C MANE Select ENSP00000325954.9:p.Gly519Ala
ENST00000317716.13:c.1556G>C ENSP00000325954.9:p.Gly519Ala
ENST00000466045.1:c.700+1950G>C ENSP00000419017.1:n.700+1950G>C
ENST00000468477.1:c.60-2398G>C
ENST00000470188.5:n.1849+1950G>C
ENST00000478080.5:c.1292G>C ENSP00000417771.1:p.Gly431Ala
NM_001301161.1:c.1292G>C NP_001288090.1:p.Gly431Ala
NM_152750.4:c.1556G>C NP_689963.2:p.Gly519Ala
XM_005250224.3:c.1292G>C XP_005250281.1:p.Gly431Ala
XM_005250225.1:c.1556G>C XP_005250282.1:p.Gly519Ala
XM_005250226.1:c.500G>C XP_005250283.1:p.Gly167Ala
XM_006715905.1:c.1426+1950G>C XP_006715968.1:n.1426+1950G>C
XM_006715906.2:c.1010G>C XP_006715969.1:p.Gly337Ala
XM_011515955.1:c.1556G>C XP_011514257.1:p.Gly519Ala
XM_011515956.1:c.1010G>C XP_011514258.1:p.Gly337Ala
XM_011515957.1:c.1556G>C XP_011514259.1:p.Gly519Ala
XM_011515958.1:c.1426+1950G>C XP_011514260.1:n.1426+1950G>C
XM_011515959.1:c.500G>C XP_011514261.1:p.Gly167Ala
XR_927414.1:n.1632G>C
XM_005250224.5:c.1292G>C XP_005250281.1:p.Gly431Ala
XM_005250225.2:c.1556G>C XP_005250282.1:p.Gly519Ala
XM_006715905.2:c.1426+1950G>C XP_006715968.1:n.1426+1950G>C
XM_011515955.2:c.1556G>C XP_011514257.1:p.Gly519Ala
XM_011515956.2:c.1010G>C XP_011514258.1:p.Gly337Ala
XM_011515957.2:c.1556G>C XP_011514259.1:p.Gly519Ala
XM_011515958.2:c.1426+1950G>C XP_011514260.1:n.1426+1950G>C
XM_011515959.2:c.500G>C XP_011514261.1:p.Gly167Ala
XM_017011862.1:c.1556G>C XP_016867351.1:p.Gly519Ala
XM_017011863.2:c.1010G>C XP_016867352.1:p.Gly337Ala
XM_017011864.1:c.1010G>C XP_016867353.1:p.Gly337Ala
XM_017011865.2:c.1162+1950G>C XP_016867354.1:n.1162+1950G>C
XM_017011866.2:c.707G>C XP_016867355.1:p.Gly236Ala
XM_017011867.2:c.880+1950G>C XP_016867356.1:n.880+1950G>C
XM_024446689.1:c.500G>C XP_024302457.1:p.Gly167Ala
XM_024446690.1:c.577+1950G>C XP_024302458.1:n.577+1950G>C
XR_001744598.1:n.1632G>C
XR_001744600.2:n.1632G>C
XR_001744601.2:n.1632G>C
XR_001744602.1:n.1649G>C
XR_001744603.2:n.1649G>C
XR_001744604.2:n.1502+1950G>C
XR_001744605.2:n.1502+1950G>C
XR_001744606.2:n.1502+1950G>C
XR_001744607.2:n.1502+1950G>C
XR_927414.2:n.1632G>C
NM_152750.5:c.1556G>C MANE Select NP_689963.2:p.Gly519Ala
NM_001301161.2:c.1292G>C NP_001288090.1:p.Gly431Ala