Canonical Allele Identifier: CA470061927

Gene: CDH23

Linked Data

• dbSNP Id: rs1191806147
• gnomAD v2: 10-73558118-G-A
• gnomAD v3: 10-71798361-G-A
• gnomAD v4: 10-71798361-G-A
• MyVariant Identifiers: chr10:g.73558118G>A (hg19) ; chr10:g.71798361G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798361G>A , CM000672.2:g.71798361G>A	GRCh38
NC_000010.10:g.73558118G>A , CM000672.1:g.73558118G>A	GRCh37
NC_000010.9:g.73228124G>A	NCBI36
NG_008835.1:g.406415G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6837G>A MANE Select	ENSP00000224721.9:p.Leu2279=
ENST00000642965.1:c.770G>A	ENSP00000495222.1:n.770G>A
ENST00000647092.1:c.434G>A	ENSP00000495176.1:n.434G>A
ENST00000224721.10:c.6852G>A	ENSP00000224721.8:p.Leu2284=
ENST00000398788.4:c.117G>A	ENSP00000381768.3:p.Leu39=
ENST00000475158.1:n.373G>A
ENST00000619887.4:c.117G>A	ENSP00000478374.1:p.Leu39=
ENST00000622827.4:c.6837G>A	ENSP00000483211.1:p.Leu2279=
NM_001171933.1:c.117G>A	NP_001165404.1:p.Leu39=
NM_001171934.1:c.117G>A	NP_001165405.1:p.Leu39=
NM_022124.5:c.6837G>A	NP_071407.4:p.Leu2279=
XM_006717940.2:c.7032G>A	XP_006718003.1:p.Leu2344=
XM_006717942.2:c.6966G>A	XP_006718005.1:p.Leu2322=
XM_011540039.1:c.7029G>A	XP_011538341.1:p.Leu2343=
XM_011540040.1:c.7026G>A	XP_011538342.1:p.Leu2342=
XM_011540041.1:c.6972G>A	XP_011538343.1:p.Leu2324=
XM_011540042.1:c.6942G>A	XP_011538344.1:p.Leu2314=
XM_011540043.1:c.7032G>A	XP_011538345.1:p.Leu2344=
XM_011540044.1:c.6897G>A	XP_011538346.1:p.Leu2299=
XM_011540045.1:c.7032G>A	XP_011538347.1:p.Leu2344=
XM_011540046.1:c.6492G>A	XP_011538348.1:p.Leu2164=
XM_011540047.1:c.5850G>A	XP_011538349.1:p.Leu1950=
XM_011540052.1:c.3360G>A	XP_011538354.1:p.Leu1120=
NM_022124.6:c.6837G>A MANE Select	NP_071407.4:p.Leu2279=