Canonical Allele Identifier: CA209444024

Gene: CDH23

Linked Data

• dbSNP Id: rs1052484950
• gnomAD v4: 10-71812511-C-A
• MyVariant Identifiers: chr10:g.73572268C>A (hg19) ; chr10:g.71812511C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71812511C>A , CM000672.2:g.71812511C>A	GRCh38
NC_000010.10:g.73572268C>A , CM000672.1:g.73572268C>A	GRCh37
NC_000010.9:g.73242274C>A	NCBI36
NG_008835.1:g.420565C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.9412C>A MANE Select	ENSP00000224721.9:p.Arg3138=
ENST00000642965.1:c.3345C>A	ENSP00000495222.1:n.3345C>A
ENST00000647092.1:c.3009C>A	ENSP00000495176.1:n.3009C>A
ENST00000224721.10:c.9427C>A	ENSP00000224721.8:p.Arg3143=
ENST00000398788.4:c.2692C>A	ENSP00000381768.3:p.Arg898=
ENST00000475158.1:n.2948C>A
ENST00000619887.4:c.2692C>A	ENSP00000478374.1:p.Arg898=
ENST00000622827.4:c.9412C>A	ENSP00000483211.1:p.Arg3138=
NM_001171933.1:c.2692C>A	NP_001165404.1:p.Arg898=
NM_001171934.1:c.2692C>A	NP_001165405.1:p.Arg898=
NM_001171935.1:c.103C>A	NP_001165406.1:p.Arg35=
NM_001171936.1:c.103C>A	NP_001165407.1:p.Arg35=
NM_022124.5:c.9412C>A	NP_071407.4:p.Arg3138=
XM_006717940.2:c.9607C>A	XP_006718003.1:p.Arg3203=
XM_006717942.2:c.9541C>A	XP_006718005.1:p.Arg3181=
XM_011540039.1:c.9604C>A	XP_011538341.1:p.Arg3202=
XM_011540040.1:c.9601C>A	XP_011538342.1:p.Arg3201=
XM_011540041.1:c.9547C>A	XP_011538343.1:p.Arg3183=
XM_011540042.1:c.9517C>A	XP_011538344.1:p.Arg3173=
XM_011540043.1:c.9607C>A	XP_011538345.1:p.Arg3203=
XM_011540044.1:c.9472C>A	XP_011538346.1:p.Arg3158=
XM_011540045.1:c.9607C>A	XP_011538347.1:p.Arg3203=
XM_011540046.1:c.9067C>A	XP_011538348.1:p.Arg3023=
XM_011540047.1:c.8425C>A	XP_011538349.1:p.Arg2809=
XM_011540052.1:c.5935C>A	XP_011538354.1:p.Arg1979=
NM_022124.6:c.9412C>A MANE Select	NP_071407.4:p.Arg3138=