Canonical Allele Identifier: CA377131479
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71807612T>G , CM000672.2:g.71807612T>G GRCh38
NC_000010.10:g.73567369T>G , CM000672.1:g.73567369T>G GRCh37
NC_000010.9:g.73237375T>G NCBI36
NG_008835.1:g.415666T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.8405T>G MANE Select ENSP00000224721.9:p.Ile2802Ser
ENST00000642965.1:c.2338T>G ENSP00000495222.1:n.2338T>G
ENST00000647092.1:c.2002T>G ENSP00000495176.1:n.2002T>G
ENST00000224721.10:c.8420T>G ENSP00000224721.8:p.Ile2807Ser
ENST00000398788.4:c.1685T>G ENSP00000381768.3:p.Ile562Ser
ENST00000475158.1:n.1941T>G
ENST00000619887.4:c.1685T>G ENSP00000478374.1:p.Ile562Ser
ENST00000622827.4:c.8405T>G ENSP00000483211.1:p.Ile2802Ser
NM_001171933.1:c.1685T>G NP_001165404.1:p.Ile562Ser
NM_001171934.1:c.1685T>G NP_001165405.1:p.Ile562Ser
NM_022124.5:c.8405T>G NP_071407.4:p.Ile2802Ser
XM_006717940.2:c.8600T>G XP_006718003.1:p.Ile2867Ser
XM_006717942.2:c.8534T>G XP_006718005.1:p.Ile2845Ser
XM_011540039.1:c.8597T>G XP_011538341.1:p.Ile2866Ser
XM_011540040.1:c.8594T>G XP_011538342.1:p.Ile2865Ser
XM_011540041.1:c.8540T>G XP_011538343.1:p.Ile2847Ser
XM_011540042.1:c.8510T>G XP_011538344.1:p.Ile2837Ser
XM_011540043.1:c.8600T>G XP_011538345.1:p.Ile2867Ser
XM_011540044.1:c.8465T>G XP_011538346.1:p.Ile2822Ser
XM_011540045.1:c.8600T>G XP_011538347.1:p.Ile2867Ser
XM_011540046.1:c.8060T>G XP_011538348.1:p.Ile2687Ser
XM_011540047.1:c.7418T>G XP_011538349.1:p.Ile2473Ser
XM_011540052.1:c.4928T>G XP_011538354.1:p.Ile1643Ser
NM_022124.6:c.8405T>G MANE Select NP_071407.4:p.Ile2802Ser