Canonical Allele Identifier: CA377158495
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798566G>A , CM000672.2:g.71798566G>A GRCh38
NC_000010.10:g.73558323G>A , CM000672.1:g.73558323G>A GRCh37
NC_000010.9:g.73228329G>A NCBI36
NG_008835.1:g.406620G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.7042G>A MANE Select ENSP00000224721.9:p.Asp2348Asn
ENST00000642965.1:c.975G>A ENSP00000495222.1:n.975G>A
ENST00000647092.1:c.639G>A ENSP00000495176.1:n.639G>A
ENST00000224721.10:c.7057G>A ENSP00000224721.8:p.Asp2353Asn
ENST00000398788.4:c.322G>A ENSP00000381768.3:p.Asp108Asn
ENST00000475158.1:n.578G>A
ENST00000619887.4:c.322G>A ENSP00000478374.1:p.Asp108Asn
ENST00000622827.4:c.7042G>A ENSP00000483211.1:p.Asp2348Asn
NM_001171933.1:c.322G>A NP_001165404.1:p.Asp108Asn
NM_001171934.1:c.322G>A NP_001165405.1:p.Asp108Asn
NM_022124.5:c.7042G>A NP_071407.4:p.Asp2348Asn
XM_006717940.2:c.7237G>A XP_006718003.1:p.Asp2413Asn
XM_006717942.2:c.7171G>A XP_006718005.1:p.Asp2391Asn
XM_011540039.1:c.7234G>A XP_011538341.1:p.Asp2412Asn
XM_011540040.1:c.7231G>A XP_011538342.1:p.Asp2411Asn
XM_011540041.1:c.7177G>A XP_011538343.1:p.Asp2393Asn
XM_011540042.1:c.7147G>A XP_011538344.1:p.Asp2383Asn
XM_011540043.1:c.7237G>A XP_011538345.1:p.Asp2413Asn
XM_011540044.1:c.7102G>A XP_011538346.1:p.Asp2368Asn
XM_011540045.1:c.7237G>A XP_011538347.1:p.Asp2413Asn
XM_011540046.1:c.6697G>A XP_011538348.1:p.Asp2233Asn
XM_011540047.1:c.6055G>A XP_011538349.1:p.Asp2019Asn
XM_011540052.1:c.3565G>A XP_011538354.1:p.Asp1189Asn
NM_022124.6:c.7042G>A MANE Select NP_071407.4:p.Asp2348Asn