Canonical Allele Identifier: CA377136446

Gene: CDH23

Linked Data

• dbSNP Id: rs1052484950
• gnomAD v3: 10-71812511-C-G
• gnomAD v4: 10-71812511-C-G
• MyVariant Identifiers: chr10:g.73572268C>G (hg19) ; chr10:g.71812511C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.9412C>G MANE Select	ENSP00000224721.9:p.Arg3138Gly
ENST00000642965.1:c.3345C>G	ENSP00000495222.1:n.3345C>G
ENST00000647092.1:c.3009C>G	ENSP00000495176.1:n.3009C>G
ENST00000224721.10:c.9427C>G	ENSP00000224721.8:p.Arg3143Gly
ENST00000398788.4:c.2692C>G	ENSP00000381768.3:p.Arg898Gly
ENST00000475158.1:n.2948C>G
ENST00000619887.4:c.2692C>G	ENSP00000478374.1:p.Arg898Gly
ENST00000622827.4:c.9412C>G	ENSP00000483211.1:p.Arg3138Gly
NM_001171933.1:c.2692C>G	NP_001165404.1:p.Arg898Gly
NM_001171934.1:c.2692C>G	NP_001165405.1:p.Arg898Gly
NM_001171935.1:c.103C>G	NP_001165406.1:p.Arg35Gly
NM_001171936.1:c.103C>G	NP_001165407.1:p.Arg35Gly
NM_022124.5:c.9412C>G	NP_071407.4:p.Arg3138Gly
XM_006717940.2:c.9607C>G	XP_006718003.1:p.Arg3203Gly
XM_006717942.2:c.9541C>G	XP_006718005.1:p.Arg3181Gly
XM_011540039.1:c.9604C>G	XP_011538341.1:p.Arg3202Gly
XM_011540040.1:c.9601C>G	XP_011538342.1:p.Arg3201Gly
XM_011540041.1:c.9547C>G	XP_011538343.1:p.Arg3183Gly
XM_011540042.1:c.9517C>G	XP_011538344.1:p.Arg3173Gly
XM_011540043.1:c.9607C>G	XP_011538345.1:p.Arg3203Gly
XM_011540044.1:c.9472C>G	XP_011538346.1:p.Arg3158Gly
XM_011540045.1:c.9607C>G	XP_011538347.1:p.Arg3203Gly
XM_011540046.1:c.9067C>G	XP_011538348.1:p.Arg3023Gly
XM_011540047.1:c.8425C>G	XP_011538349.1:p.Arg2809Gly
XM_011540052.1:c.5935C>G	XP_011538354.1:p.Arg1979Gly
NM_022124.6:c.9412C>G MANE Select	NP_071407.4:p.Arg3138Gly