Canonical Allele Identifier: CA5546648

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807628C>T , CM000672.2:g.71807628C>T	GRCh38
NC_000010.10:g.73567385C>T , CM000672.1:g.73567385C>T	GRCh37
NC_000010.9:g.73237391C>T	NCBI36
NG_008835.1:g.415682C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.8421C>T MANE Select	NP_071407.4:p.Ser2807=
ENST00000224721.12:c.8421C>T MANE Select	ENSP00000224721.9:p.Ser2807=
NM_001171933.1:c.1701C>T	NP_001165404.1:p.Ser567=
NM_001171934.1:c.1701C>T	NP_001165405.1:p.Ser567=
NM_022124.5:c.8421C>T	NP_071407.4:p.Ser2807=
ENST00000224721.10:c.8436C>T	ENSP00000224721.8:p.Ser2812=
ENST00000398788.4:c.1701C>T	ENSP00000381768.3:p.Ser567=
ENST00000475158.1:n.1957C>T
ENST00000619887.4:c.1701C>T	ENSP00000478374.1:p.Ser567=
ENST00000622827.4:c.8421C>T	ENSP00000483211.1:p.Ser2807=
ENST00000642965.1:c.2354C>T	ENSP00000495222.1:n.2354C>T
ENST00000647092.1:c.2018C>T	ENSP00000495176.1:n.2018C>T
XM_006717940.2:c.8616C>T	XP_006718003.1:p.Ser2872=
XM_006717942.2:c.8550C>T	XP_006718005.1:p.Ser2850=
XM_011540039.1:c.8613C>T	XP_011538341.1:p.Ser2871=
XM_011540040.1:c.8610C>T	XP_011538342.1:p.Ser2870=
XM_011540041.1:c.8556C>T	XP_011538343.1:p.Ser2852=
XM_011540042.1:c.8526C>T	XP_011538344.1:p.Ser2842=
XM_011540043.1:c.8616C>T	XP_011538345.1:p.Ser2872=
XM_011540044.1:c.8481C>T	XP_011538346.1:p.Ser2827=
XM_011540045.1:c.8616C>T	XP_011538347.1:p.Ser2872=
XM_011540046.1:c.8076C>T	XP_011538348.1:p.Ser2692=
XM_011540047.1:c.7434C>T	XP_011538349.1:p.Ser2478=
XM_011540052.1:c.4944C>T	XP_011538354.1:p.Ser1648=