Canonical Allele Identifier: CA209469509
Gene: CDH23 HGNC NCBI

Linked Data

dbSNP Id: rs763763683

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798369A>T , CM000672.2:g.71798369A>T GRCh38
NC_000010.10:g.73558126A>T , CM000672.1:g.73558126A>T GRCh37
NC_000010.9:g.73228132A>T NCBI36
NG_008835.1:g.406423A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.6845A>T MANE Select ENSP00000224721.9:p.Asn2282Ile
ENST00000642965.1:c.778A>T ENSP00000495222.1:n.778A>T
ENST00000647092.1:c.442A>T ENSP00000495176.1:n.442A>T
ENST00000224721.10:c.6860A>T ENSP00000224721.8:p.Asn2287Ile
ENST00000398788.4:c.125A>T ENSP00000381768.3:p.Asn42Ile
ENST00000475158.1:n.381A>T
ENST00000619887.4:c.125A>T ENSP00000478374.1:p.Asn42Ile
ENST00000622827.4:c.6845A>T ENSP00000483211.1:p.Asn2282Ile
NM_001171933.1:c.125A>T NP_001165404.1:p.Asn42Ile
NM_001171934.1:c.125A>T NP_001165405.1:p.Asn42Ile
NM_022124.5:c.6845A>T NP_071407.4:p.Asn2282Ile
XM_006717940.2:c.7040A>T XP_006718003.1:p.Asn2347Ile
XM_006717942.2:c.6974A>T XP_006718005.1:p.Asn2325Ile
XM_011540039.1:c.7037A>T XP_011538341.1:p.Asn2346Ile
XM_011540040.1:c.7034A>T XP_011538342.1:p.Asn2345Ile
XM_011540041.1:c.6980A>T XP_011538343.1:p.Asn2327Ile
XM_011540042.1:c.6950A>T XP_011538344.1:p.Asn2317Ile
XM_011540043.1:c.7040A>T XP_011538345.1:p.Asn2347Ile
XM_011540044.1:c.6905A>T XP_011538346.1:p.Asn2302Ile
XM_011540045.1:c.7040A>T XP_011538347.1:p.Asn2347Ile
XM_011540046.1:c.6500A>T XP_011538348.1:p.Asn2167Ile
XM_011540047.1:c.5858A>T XP_011538349.1:p.Asn1953Ile
XM_011540052.1:c.3368A>T XP_011538354.1:p.Asn1123Ile
NM_022124.6:c.6845A>T MANE Select NP_071407.4:p.Asn2282Ile