Canonical Allele Identifier: CA377131293

Gene: CDH23

Linked Data

• dbSNP Id: rs2132988656
• MyVariant Identifiers: chr10:g.73567279A>T (hg19) ; chr10:g.71807522A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807522A>T , CM000672.2:g.71807522A>T	GRCh38
NC_000010.10:g.73567279A>T , CM000672.1:g.73567279A>T	GRCh37
NC_000010.9:g.73237285A>T	NCBI36
NG_008835.1:g.415576A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8315A>T MANE Select	ENSP00000224721.9:p.Asn2772Ile
ENST00000642965.1:c.2248A>T	ENSP00000495222.1:n.2248A>T
ENST00000647092.1:c.1912A>T	ENSP00000495176.1:n.1912A>T
ENST00000224721.10:c.8330A>T	ENSP00000224721.8:p.Asn2777Ile
ENST00000398788.4:c.1595A>T	ENSP00000381768.3:p.Asn532Ile
ENST00000475158.1:n.1851A>T
ENST00000619887.4:c.1595A>T	ENSP00000478374.1:p.Asn532Ile
ENST00000622827.4:c.8315A>T	ENSP00000483211.1:p.Asn2772Ile
NM_001171933.1:c.1595A>T	NP_001165404.1:p.Asn532Ile
NM_001171934.1:c.1595A>T	NP_001165405.1:p.Asn532Ile
NM_022124.5:c.8315A>T	NP_071407.4:p.Asn2772Ile
XM_006717940.2:c.8510A>T	XP_006718003.1:p.Asn2837Ile
XM_006717942.2:c.8444A>T	XP_006718005.1:p.Asn2815Ile
XM_011540039.1:c.8507A>T	XP_011538341.1:p.Asn2836Ile
XM_011540040.1:c.8504A>T	XP_011538342.1:p.Asn2835Ile
XM_011540041.1:c.8450A>T	XP_011538343.1:p.Asn2817Ile
XM_011540042.1:c.8420A>T	XP_011538344.1:p.Asn2807Ile
XM_011540043.1:c.8510A>T	XP_011538345.1:p.Asn2837Ile
XM_011540044.1:c.8375A>T	XP_011538346.1:p.Asn2792Ile
XM_011540045.1:c.8510A>T	XP_011538347.1:p.Asn2837Ile
XM_011540046.1:c.7970A>T	XP_011538348.1:p.Asn2657Ile
XM_011540047.1:c.7328A>T	XP_011538349.1:p.Asn2443Ile
XM_011540052.1:c.4838A>T	XP_011538354.1:p.Asn1613Ile
NM_022124.6:c.8315A>T MANE Select	NP_071407.4:p.Asn2772Ile