Canonical Allele Identifier: CA137653
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71815191C>T , CM000672.2:g.71815191C>T GRCh38
NC_000010.10:g.73574948C>T , CM000672.1:g.73574948C>T GRCh37
NC_000010.9:g.73244954C>T NCBI36
NG_008835.1:g.423245C>T
NG_009301.1:g.41135G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.9978C>T MANE Select ENSP00000224721.9:p.Asn3326=
ENST00000642965.1:c.3911C>T ENSP00000495222.1:n.3911C>T
ENST00000647092.1:c.3470C>T ENSP00000495176.1:n.3470C>T
ENST00000224721.10:c.9993C>T ENSP00000224721.8:p.Asn3331=
ENST00000398788.4:c.3258C>T ENSP00000381768.3:p.Asn1086=
ENST00000475158.1:n.3409C>T
ENST00000619887.4:c.3153C>T ENSP00000478374.1:p.Asn1051=
ENST00000622827.4:c.9978C>T ENSP00000483211.1:p.Asn3326=
NM_001171933.1:c.3258C>T NP_001165404.1:p.Asn1086=
NM_001171934.1:c.3153C>T NP_001165405.1:p.Asn1051=
NM_001171935.1:c.669C>T NP_001165406.1:p.Asn223=
NM_001171936.1:c.564C>T NP_001165407.1:p.Asn188=
NM_022124.5:c.9978C>T NP_071407.4:p.Asn3326=
XM_006717940.2:c.10173C>T XP_006718003.1:p.Asn3391=
XM_006717942.2:c.10107C>T XP_006718005.1:p.Asn3369=
XM_011540039.1:c.10170C>T XP_011538341.1:p.Asn3390=
XM_011540040.1:c.10167C>T XP_011538342.1:p.Asn3389=
XM_011540041.1:c.10113C>T XP_011538343.1:p.Asn3371=
XM_011540042.1:c.10083C>T XP_011538344.1:p.Asn3361=
XM_011540043.1:c.10068C>T XP_011538345.1:p.Asn3356=
XM_011540044.1:c.10038C>T XP_011538346.1:p.Asn3346=
XM_011540046.1:c.9633C>T XP_011538348.1:p.Asn3211=
XM_011540047.1:c.8991C>T XP_011538349.1:p.Asn2997=
XM_011540052.1:c.6501C>T XP_011538354.1:p.Asn2167=
NM_022124.6:c.9978C>T MANE Select NP_071407.4:p.Asn3326=