Canonical Allele Identifier: CA377158142

Gene: CDH23

Linked Data

• dbSNP Id: rs1564799527
• gnomAD v4: 10-71798506-A-G
• MyVariant Identifiers: chr10:g.73558263A>G (hg19) ; chr10:g.71798506A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798506A>G , CM000672.2:g.71798506A>G	GRCh38
NC_000010.10:g.73558263A>G , CM000672.1:g.73558263A>G	GRCh37
NC_000010.9:g.73228269A>G	NCBI36
NG_008835.1:g.406560A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6982A>G MANE Select	ENSP00000224721.9:p.Asn2328Asp
ENST00000642965.1:c.915A>G	ENSP00000495222.1:n.915A>G
ENST00000647092.1:c.579A>G	ENSP00000495176.1:n.579A>G
ENST00000224721.10:c.6997A>G	ENSP00000224721.8:p.Asn2333Asp
ENST00000398788.4:c.262A>G	ENSP00000381768.3:p.Asn88Asp
ENST00000475158.1:n.518A>G
ENST00000619887.4:c.262A>G	ENSP00000478374.1:p.Asn88Asp
ENST00000622827.4:c.6982A>G	ENSP00000483211.1:p.Asn2328Asp
NM_001171933.1:c.262A>G	NP_001165404.1:p.Asn88Asp
NM_001171934.1:c.262A>G	NP_001165405.1:p.Asn88Asp
NM_022124.5:c.6982A>G	NP_071407.4:p.Asn2328Asp
XM_006717940.2:c.7177A>G	XP_006718003.1:p.Asn2393Asp
XM_006717942.2:c.7111A>G	XP_006718005.1:p.Asn2371Asp
XM_011540039.1:c.7174A>G	XP_011538341.1:p.Asn2392Asp
XM_011540040.1:c.7171A>G	XP_011538342.1:p.Asn2391Asp
XM_011540041.1:c.7117A>G	XP_011538343.1:p.Asn2373Asp
XM_011540042.1:c.7087A>G	XP_011538344.1:p.Asn2363Asp
XM_011540043.1:c.7177A>G	XP_011538345.1:p.Asn2393Asp
XM_011540044.1:c.7042A>G	XP_011538346.1:p.Asn2348Asp
XM_011540045.1:c.7177A>G	XP_011538347.1:p.Asn2393Asp
XM_011540046.1:c.6637A>G	XP_011538348.1:p.Asn2213Asp
XM_011540047.1:c.5995A>G	XP_011538349.1:p.Asn1999Asp
XM_011540052.1:c.3505A>G	XP_011538354.1:p.Asn1169Asp
NM_022124.6:c.6982A>G MANE Select	NP_071407.4:p.Asn2328Asp