Canonical Allele Identifier: CA5546352

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71800734C>T , CM000672.2:g.71800734C>T	GRCh38
NC_000010.10:g.73560491C>T , CM000672.1:g.73560491C>T	GRCh37
NC_000010.9:g.73230497C>T	NCBI36
NG_008835.1:g.408788C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.7461C>T MANE Select	NP_071407.4:p.Asn2487=
ENST00000224721.12:c.7461C>T MANE Select	ENSP00000224721.9:p.Asn2487=
NM_001171933.1:c.741C>T	NP_001165404.1:p.Asn247=
NM_001171934.1:c.741C>T	NP_001165405.1:p.Asn247=
NM_022124.5:c.7461C>T	NP_071407.4:p.Asn2487=
ENST00000224721.10:c.7476C>T	ENSP00000224721.8:p.Asn2492=
ENST00000398788.4:c.741C>T	ENSP00000381768.3:p.Asn247=
ENST00000475158.1:n.997C>T
ENST00000619887.4:c.741C>T	ENSP00000478374.1:p.Asn247=
ENST00000622827.4:c.7461C>T	ENSP00000483211.1:p.Asn2487=
ENST00000642965.1:c.1394C>T	ENSP00000495222.1:n.1394C>T
ENST00000647092.1:c.1058C>T	ENSP00000495176.1:n.1058C>T
XM_006717940.2:c.7656C>T	XP_006718003.1:p.Asn2552=
XM_006717942.2:c.7590C>T	XP_006718005.1:p.Asn2530=
XM_011540039.1:c.7653C>T	XP_011538341.1:p.Asn2551=
XM_011540040.1:c.7650C>T	XP_011538342.1:p.Asn2550=
XM_011540041.1:c.7596C>T	XP_011538343.1:p.Asn2532=
XM_011540042.1:c.7566C>T	XP_011538344.1:p.Asn2522=
XM_011540043.1:c.7656C>T	XP_011538345.1:p.Asn2552=
XM_011540044.1:c.7521C>T	XP_011538346.1:p.Asn2507=
XM_011540045.1:c.7656C>T	XP_011538347.1:p.Asn2552=
XM_011540046.1:c.7116C>T	XP_011538348.1:p.Asn2372=
XM_011540047.1:c.6474C>T	XP_011538349.1:p.Asn2158=
XM_011540052.1:c.3984C>T	XP_011538354.1:p.Asn1328=