Canonical Allele Identifier: CA377133806

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71810017G>T , CM000672.2:g.71810017G>T	GRCh38
NC_000010.10:g.73569774G>T , CM000672.1:g.73569774G>T	GRCh37
NC_000010.9:g.73239780G>T	NCBI36
NG_008835.1:g.418071G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.8920G>T MANE Select	NP_071407.4:p.Glu2974Ter
ENST00000224721.12:c.8920G>T MANE Select	ENSP00000224721.9:p.Glu2974Ter
NM_001171933.1:c.2200G>T	NP_001165404.1:p.Glu734Ter
NM_001171934.1:c.2200G>T	NP_001165405.1:p.Glu734Ter
NM_022124.5:c.8920G>T	NP_071407.4:p.Glu2974Ter
ENST00000224721.10:c.8935G>T	ENSP00000224721.8:p.Glu2979Ter
ENST00000398788.4:c.2200G>T	ENSP00000381768.3:p.Glu734Ter
ENST00000475158.1:n.2456G>T
ENST00000619887.4:c.2200G>T	ENSP00000478374.1:p.Glu734Ter
ENST00000622827.4:c.8920G>T	ENSP00000483211.1:p.Glu2974Ter
ENST00000642965.1:c.2853G>T	ENSP00000495222.1:n.2853G>T
ENST00000647092.1:c.2517G>T	ENSP00000495176.1:n.2517G>T
XM_006717940.2:c.9115G>T	XP_006718003.1:p.Glu3039Ter
XM_006717942.2:c.9049G>T	XP_006718005.1:p.Glu3017Ter
XM_011540039.1:c.9112G>T	XP_011538341.1:p.Glu3038Ter
XM_011540040.1:c.9109G>T	XP_011538342.1:p.Glu3037Ter
XM_011540041.1:c.9055G>T	XP_011538343.1:p.Glu3019Ter
XM_011540042.1:c.9025G>T	XP_011538344.1:p.Glu3009Ter
XM_011540043.1:c.9115G>T	XP_011538345.1:p.Glu3039Ter
XM_011540044.1:c.8980G>T	XP_011538346.1:p.Glu2994Ter
XM_011540045.1:c.9115G>T	XP_011538347.1:p.Glu3039Ter
XM_011540046.1:c.8575G>T	XP_011538348.1:p.Glu2859Ter
XM_011540047.1:c.7933G>T	XP_011538349.1:p.Glu2645Ter
XM_011540052.1:c.5443G>T	XP_011538354.1:p.Glu1815Ter