Canonical Allele Identifier: CA5547128

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71812822C>G , CM000672.2:g.71812822C>G	GRCh38
NC_000010.10:g.73572579C>G , CM000672.1:g.73572579C>G	GRCh37
NC_000010.9:g.73242585C>G	NCBI36
NG_008835.1:g.420876C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.9565C>G MANE Select	ENSP00000224721.9:p.Arg3189Gly
ENST00000642965.1:c.3498C>G	ENSP00000495222.1:n.3498C>G
ENST00000647092.1:c.3162C>G	ENSP00000495176.1:n.3162C>G
ENST00000224721.10:c.9580C>G	ENSP00000224721.8:p.Arg3194Gly
ENST00000398788.4:c.2845C>G	ENSP00000381768.3:p.Arg949Gly
ENST00000475158.1:n.3101C>G
ENST00000619887.4:c.2845C>G	ENSP00000478374.1:p.Arg949Gly
ENST00000622827.4:c.9565C>G	ENSP00000483211.1:p.Arg3189Gly
NM_001171933.1:c.2845C>G	NP_001165404.1:p.Arg949Gly
NM_001171934.1:c.2845C>G	NP_001165405.1:p.Arg949Gly
NM_001171935.1:c.256C>G	NP_001165406.1:p.Arg86Gly
NM_001171936.1:c.256C>G	NP_001165407.1:p.Arg86Gly
NM_022124.5:c.9565C>G	NP_071407.4:p.Arg3189Gly
XM_006717940.2:c.9760C>G	XP_006718003.1:p.Arg3254Gly
XM_006717942.2:c.9694C>G	XP_006718005.1:p.Arg3232Gly
XM_011540039.1:c.9757C>G	XP_011538341.1:p.Arg3253Gly
XM_011540040.1:c.9754C>G	XP_011538342.1:p.Arg3252Gly
XM_011540041.1:c.9700C>G	XP_011538343.1:p.Arg3234Gly
XM_011540042.1:c.9670C>G	XP_011538344.1:p.Arg3224Gly
XM_011540043.1:c.9760C>G	XP_011538345.1:p.Arg3254Gly
XM_011540044.1:c.9625C>G	XP_011538346.1:p.Arg3209Gly
XM_011540045.1:c.9760C>G	XP_011538347.1:p.Arg3254Gly
XM_011540046.1:c.9220C>G	XP_011538348.1:p.Arg3074Gly
XM_011540047.1:c.8578C>G	XP_011538349.1:p.Arg2860Gly
XM_011540052.1:c.6088C>G	XP_011538354.1:p.Arg2030Gly
NM_022124.6:c.9565C>G MANE Select	NP_071407.4:p.Arg3189Gly