Canonical Allele Identifier: CA5546629

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807551G>A , CM000672.2:g.71807551G>A	GRCh38
NC_000010.10:g.73567308G>A , CM000672.1:g.73567308G>A	GRCh37
NC_000010.9:g.73237314G>A	NCBI36
NG_008835.1:g.415605G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.8344G>A MANE Select	NP_071407.4:p.Asp2782Asn
ENST00000224721.12:c.8344G>A MANE Select	ENSP00000224721.9:p.Asp2782Asn
NM_001171933.1:c.1624G>A	NP_001165404.1:p.Asp542Asn
NM_001171934.1:c.1624G>A	NP_001165405.1:p.Asp542Asn
NM_022124.5:c.8344G>A	NP_071407.4:p.Asp2782Asn
ENST00000224721.10:c.8359G>A	ENSP00000224721.8:p.Asp2787Asn
ENST00000398788.4:c.1624G>A	ENSP00000381768.3:p.Asp542Asn
ENST00000475158.1:n.1880G>A
ENST00000619887.4:c.1624G>A	ENSP00000478374.1:p.Asp542Asn
ENST00000622827.4:c.8344G>A	ENSP00000483211.1:p.Asp2782Asn
ENST00000642965.1:c.2277G>A	ENSP00000495222.1:n.2277G>A
ENST00000647092.1:c.1941G>A	ENSP00000495176.1:n.1941G>A
XM_006717940.2:c.8539G>A	XP_006718003.1:p.Asp2847Asn
XM_006717942.2:c.8473G>A	XP_006718005.1:p.Asp2825Asn
XM_011540039.1:c.8536G>A	XP_011538341.1:p.Asp2846Asn
XM_011540040.1:c.8533G>A	XP_011538342.1:p.Asp2845Asn
XM_011540041.1:c.8479G>A	XP_011538343.1:p.Asp2827Asn
XM_011540042.1:c.8449G>A	XP_011538344.1:p.Asp2817Asn
XM_011540043.1:c.8539G>A	XP_011538345.1:p.Asp2847Asn
XM_011540044.1:c.8404G>A	XP_011538346.1:p.Asp2802Asn
XM_011540045.1:c.8539G>A	XP_011538347.1:p.Asp2847Asn
XM_011540046.1:c.7999G>A	XP_011538348.1:p.Asp2667Asn
XM_011540047.1:c.7357G>A	XP_011538349.1:p.Asp2453Asn
XM_011540052.1:c.4867G>A	XP_011538354.1:p.Asp1623Asn