Canonical Allele Identifier: CA5547193

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71815073G>A , CM000672.2:g.71815073G>A	GRCh38
NC_000010.10:g.73574830G>A , CM000672.1:g.73574830G>A	GRCh37
NC_000010.9:g.73244836G>A	NCBI36
NG_008835.1:g.423127G>A
NG_009301.1:g.41253C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.9860G>A MANE Select	NP_071407.4:p.Gly3287Asp
ENST00000224721.12:c.9860G>A MANE Select	ENSP00000224721.9:p.Gly3287Asp
NM_001171933.1:c.3140G>A	NP_001165404.1:p.Gly1047Asp
NM_001171934.1:c.3035G>A	NP_001165405.1:p.Gly1012Asp
NM_001171935.1:c.551G>A	NP_001165406.1:p.Gly184Asp
NM_001171936.1:c.446G>A	NP_001165407.1:p.Gly149Asp
NM_022124.5:c.9860G>A	NP_071407.4:p.Gly3287Asp
ENST00000224721.10:c.9875G>A	ENSP00000224721.8:p.Gly3292Asp
ENST00000398788.4:c.3140G>A	ENSP00000381768.3:p.Gly1047Asp
ENST00000475158.1:n.3291G>A
ENST00000619887.4:c.3035G>A	ENSP00000478374.1:p.Gly1012Asp
ENST00000622827.4:c.9860G>A	ENSP00000483211.1:p.Gly3287Asp
ENST00000642965.1:c.3793G>A	ENSP00000495222.1:n.3793G>A
ENST00000647092.1:c.3352G>A	ENSP00000495176.1:n.3352G>A
XM_006717940.2:c.10055G>A	XP_006718003.1:p.Gly3352Asp
XM_006717942.2:c.9989G>A	XP_006718005.1:p.Gly3330Asp
XM_011540039.1:c.10052G>A	XP_011538341.1:p.Gly3351Asp
XM_011540040.1:c.10049G>A	XP_011538342.1:p.Gly3350Asp
XM_011540041.1:c.9995G>A	XP_011538343.1:p.Gly3332Asp
XM_011540042.1:c.9965G>A	XP_011538344.1:p.Gly3322Asp
XM_011540043.1:c.9950G>A	XP_011538345.1:p.Gly3317Asp
XM_011540044.1:c.9920G>A	XP_011538346.1:p.Gly3307Asp
XM_011540046.1:c.9515G>A	XP_011538348.1:p.Gly3172Asp
XM_011540047.1:c.8873G>A	XP_011538349.1:p.Gly2958Asp
XM_011540052.1:c.6383G>A	XP_011538354.1:p.Gly2128Asp