Canonical Allele Identifier: CA377160958

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73562819G>T (hg19) ; chr10:g.71803062G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71803062G>T , CM000672.2:g.71803062G>T	GRCh38
NC_000010.10:g.73562819G>T , CM000672.1:g.73562819G>T	GRCh37
NC_000010.9:g.73232825G>T	NCBI36
NG_008835.1:g.411116G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7647G>T MANE Select	ENSP00000224721.9:p.Glu2549Asp
ENST00000642965.1:c.1580G>T	ENSP00000495222.1:n.1580G>T
ENST00000647092.1:c.1244G>T	ENSP00000495176.1:n.1244G>T
ENST00000224721.10:c.7662G>T	ENSP00000224721.8:p.Glu2554Asp
ENST00000398788.4:c.927G>T	ENSP00000381768.3:p.Glu309Asp
ENST00000475158.1:n.1183G>T
ENST00000619887.4:c.927G>T	ENSP00000478374.1:p.Glu309Asp
ENST00000622827.4:c.7647G>T	ENSP00000483211.1:p.Glu2549Asp
NM_001171933.1:c.927G>T	NP_001165404.1:p.Glu309Asp
NM_001171934.1:c.927G>T	NP_001165405.1:p.Glu309Asp
NM_022124.5:c.7647G>T	NP_071407.4:p.Glu2549Asp
XM_006717940.2:c.7842G>T	XP_006718003.1:p.Glu2614Asp
XM_006717942.2:c.7776G>T	XP_006718005.1:p.Glu2592Asp
XM_011540039.1:c.7839G>T	XP_011538341.1:p.Glu2613Asp
XM_011540040.1:c.7836G>T	XP_011538342.1:p.Glu2612Asp
XM_011540041.1:c.7782G>T	XP_011538343.1:p.Glu2594Asp
XM_011540042.1:c.7752G>T	XP_011538344.1:p.Glu2584Asp
XM_011540043.1:c.7842G>T	XP_011538345.1:p.Glu2614Asp
XM_011540044.1:c.7707G>T	XP_011538346.1:p.Glu2569Asp
XM_011540045.1:c.7842G>T	XP_011538347.1:p.Glu2614Asp
XM_011540046.1:c.7302G>T	XP_011538348.1:p.Glu2434Asp
XM_011540047.1:c.6660G>T	XP_011538349.1:p.Glu2220Asp
XM_011540052.1:c.4170G>T	XP_011538354.1:p.Glu1390Asp
NM_022124.6:c.7647G>T MANE Select	NP_071407.4:p.Glu2549Asp