Canonical Allele Identifier: CA377131706
Gene: CDH23 HGNC NCBI

Linked Data

dbSNP Id: rs2132989727

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71807719G>C , CM000672.2:g.71807719G>C GRCh38
NC_000010.10:g.73567476G>C , CM000672.1:g.73567476G>C GRCh37
NC_000010.9:g.73237482G>C NCBI36
NG_008835.1:g.415773G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.8512G>C MANE Select ENSP00000224721.9:p.Asp2838His
ENST00000642965.1:c.2445G>C ENSP00000495222.1:n.2445G>C
ENST00000647092.1:c.2109G>C ENSP00000495176.1:n.2109G>C
ENST00000224721.10:c.8527G>C ENSP00000224721.8:p.Asp2843His
ENST00000398788.4:c.1792G>C ENSP00000381768.3:p.Asp598His
ENST00000475158.1:n.2048G>C
ENST00000619887.4:c.1792G>C ENSP00000478374.1:p.Asp598His
ENST00000622827.4:c.8512G>C ENSP00000483211.1:p.Asp2838His
NM_001171933.1:c.1792G>C NP_001165404.1:p.Asp598His
NM_001171934.1:c.1792G>C NP_001165405.1:p.Asp598His
NM_022124.5:c.8512G>C NP_071407.4:p.Asp2838His
XM_006717940.2:c.8707G>C XP_006718003.1:p.Asp2903His
XM_006717942.2:c.8641G>C XP_006718005.1:p.Asp2881His
XM_011540039.1:c.8704G>C XP_011538341.1:p.Asp2902His
XM_011540040.1:c.8701G>C XP_011538342.1:p.Asp2901His
XM_011540041.1:c.8647G>C XP_011538343.1:p.Asp2883His
XM_011540042.1:c.8617G>C XP_011538344.1:p.Asp2873His
XM_011540043.1:c.8707G>C XP_011538345.1:p.Asp2903His
XM_011540044.1:c.8572G>C XP_011538346.1:p.Asp2858His
XM_011540045.1:c.8707G>C XP_011538347.1:p.Asp2903His
XM_011540046.1:c.8167G>C XP_011538348.1:p.Asp2723His
XM_011540047.1:c.7525G>C XP_011538349.1:p.Asp2509His
XM_011540052.1:c.5035G>C XP_011538354.1:p.Asp1679His
NM_022124.6:c.8512G>C MANE Select NP_071407.4:p.Asp2838His