Canonical Allele Identifier: CA368806790
Gene: CDHR3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.106017971A>C , CM000669.2:g.106017971A>C GRCh38
NC_000007.13:g.105658417A>C , CM000669.1:g.105658417A>C GRCh37
NC_000007.12:g.105445653A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000317716.14:c.1552A>C MANE Select ENSP00000325954.9:p.Thr518Pro
ENST00000317716.13:c.1552A>C ENSP00000325954.9:p.Thr518Pro
ENST00000466045.1:c.700+1946A>C ENSP00000419017.1:n.700+1946A>C
ENST00000468477.1:c.60-2402A>C
ENST00000470188.5:n.1849+1946A>C
ENST00000478080.5:c.1288A>C ENSP00000417771.1:p.Thr430Pro
NM_001301161.1:c.1288A>C NP_001288090.1:p.Thr430Pro
NM_152750.4:c.1552A>C NP_689963.2:p.Thr518Pro
XM_005250224.3:c.1288A>C XP_005250281.1:p.Thr430Pro
XM_005250225.1:c.1552A>C XP_005250282.1:p.Thr518Pro
XM_005250226.1:c.496A>C XP_005250283.1:p.Thr166Pro
XM_006715905.1:c.1426+1946A>C XP_006715968.1:n.1426+1946A>C
XM_006715906.2:c.1006A>C XP_006715969.1:p.Thr336Pro
XM_011515955.1:c.1552A>C XP_011514257.1:p.Thr518Pro
XM_011515956.1:c.1006A>C XP_011514258.1:p.Thr336Pro
XM_011515957.1:c.1552A>C XP_011514259.1:p.Thr518Pro
XM_011515958.1:c.1426+1946A>C XP_011514260.1:n.1426+1946A>C
XM_011515959.1:c.496A>C XP_011514261.1:p.Thr166Pro
XR_927414.1:n.1628A>C
XM_005250224.5:c.1288A>C XP_005250281.1:p.Thr430Pro
XM_005250225.2:c.1552A>C XP_005250282.1:p.Thr518Pro
XM_006715905.2:c.1426+1946A>C XP_006715968.1:n.1426+1946A>C
XM_011515955.2:c.1552A>C XP_011514257.1:p.Thr518Pro
XM_011515956.2:c.1006A>C XP_011514258.1:p.Thr336Pro
XM_011515957.2:c.1552A>C XP_011514259.1:p.Thr518Pro
XM_011515958.2:c.1426+1946A>C XP_011514260.1:n.1426+1946A>C
XM_011515959.2:c.496A>C XP_011514261.1:p.Thr166Pro
XM_017011862.1:c.1552A>C XP_016867351.1:p.Thr518Pro
XM_017011863.2:c.1006A>C XP_016867352.1:p.Thr336Pro
XM_017011864.1:c.1006A>C XP_016867353.1:p.Thr336Pro
XM_017011865.2:c.1162+1946A>C XP_016867354.1:n.1162+1946A>C
XM_017011866.2:c.703A>C XP_016867355.1:p.Thr235Pro
XM_017011867.2:c.880+1946A>C XP_016867356.1:n.880+1946A>C
XM_024446689.1:c.496A>C XP_024302457.1:p.Thr166Pro
XM_024446690.1:c.577+1946A>C XP_024302458.1:n.577+1946A>C
XR_001744598.1:n.1628A>C
XR_001744600.2:n.1628A>C
XR_001744601.2:n.1628A>C
XR_001744602.1:n.1645A>C
XR_001744603.2:n.1645A>C
XR_001744604.2:n.1502+1946A>C
XR_001744605.2:n.1502+1946A>C
XR_001744606.2:n.1502+1946A>C
XR_001744607.2:n.1502+1946A>C
XR_927414.2:n.1628A>C
NM_152750.5:c.1552A>C MANE Select NP_689963.2:p.Thr518Pro
NM_001301161.2:c.1288A>C NP_001288090.1:p.Thr430Pro