Canonical Allele Identifier: CA377131594

Gene: CDH23

Linked Data

• dbSNP Id: rs373155603
• MyVariant Identifiers: chr10:g.73567429A>T (hg19) ; chr10:g.71807672A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807672A>T , CM000672.2:g.71807672A>T	GRCh38
NC_000010.10:g.73567429A>T , CM000672.1:g.73567429A>T	GRCh37
NC_000010.9:g.73237435A>T	NCBI36
NG_008835.1:g.415726A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8465A>T MANE Select	ENSP00000224721.9:p.Asp2822Val
ENST00000642965.1:c.2398A>T	ENSP00000495222.1:n.2398A>T
ENST00000647092.1:c.2062A>T	ENSP00000495176.1:n.2062A>T
ENST00000224721.10:c.8480A>T	ENSP00000224721.8:p.Asp2827Val
ENST00000398788.4:c.1745A>T	ENSP00000381768.3:p.Asp582Val
ENST00000475158.1:n.2001A>T
ENST00000619887.4:c.1745A>T	ENSP00000478374.1:p.Asp582Val
ENST00000622827.4:c.8465A>T	ENSP00000483211.1:p.Asp2822Val
NM_001171933.1:c.1745A>T	NP_001165404.1:p.Asp582Val
NM_001171934.1:c.1745A>T	NP_001165405.1:p.Asp582Val
NM_022124.5:c.8465A>T	NP_071407.4:p.Asp2822Val
XM_006717940.2:c.8660A>T	XP_006718003.1:p.Asp2887Val
XM_006717942.2:c.8594A>T	XP_006718005.1:p.Asp2865Val
XM_011540039.1:c.8657A>T	XP_011538341.1:p.Asp2886Val
XM_011540040.1:c.8654A>T	XP_011538342.1:p.Asp2885Val
XM_011540041.1:c.8600A>T	XP_011538343.1:p.Asp2867Val
XM_011540042.1:c.8570A>T	XP_011538344.1:p.Asp2857Val
XM_011540043.1:c.8660A>T	XP_011538345.1:p.Asp2887Val
XM_011540044.1:c.8525A>T	XP_011538346.1:p.Asp2842Val
XM_011540045.1:c.8660A>T	XP_011538347.1:p.Asp2887Val
XM_011540046.1:c.8120A>T	XP_011538348.1:p.Asp2707Val
XM_011540047.1:c.7478A>T	XP_011538349.1:p.Asp2493Val
XM_011540052.1:c.4988A>T	XP_011538354.1:p.Asp1663Val
NM_022124.6:c.8465A>T MANE Select	NP_071407.4:p.Asp2822Val