Canonical Allele Identifier: CA5546207

Gene: CDH23

Linked Data

• dbSNP Id: rs763763683
• ExAC: 10:73558126 A / G
• gnomAD v2: 10-73558126-A-G
• gnomAD v4: 10-71798369-A-G
• MyVariant Identifiers: chr10:g.73558126A>G (hg19) ; chr10:g.71798369A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798369A>G , CM000672.2:g.71798369A>G	GRCh38
NC_000010.10:g.73558126A>G , CM000672.1:g.73558126A>G	GRCh37
NC_000010.9:g.73228132A>G	NCBI36
NG_008835.1:g.406423A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6845A>G MANE Select	ENSP00000224721.9:p.Asn2282Ser
ENST00000642965.1:c.778A>G	ENSP00000495222.1:n.778A>G
ENST00000647092.1:c.442A>G	ENSP00000495176.1:n.442A>G
ENST00000224721.10:c.6860A>G	ENSP00000224721.8:p.Asn2287Ser
ENST00000398788.4:c.125A>G	ENSP00000381768.3:p.Asn42Ser
ENST00000475158.1:n.381A>G
ENST00000619887.4:c.125A>G	ENSP00000478374.1:p.Asn42Ser
ENST00000622827.4:c.6845A>G	ENSP00000483211.1:p.Asn2282Ser
NM_001171933.1:c.125A>G	NP_001165404.1:p.Asn42Ser
NM_001171934.1:c.125A>G	NP_001165405.1:p.Asn42Ser
NM_022124.5:c.6845A>G	NP_071407.4:p.Asn2282Ser
XM_006717940.2:c.7040A>G	XP_006718003.1:p.Asn2347Ser
XM_006717942.2:c.6974A>G	XP_006718005.1:p.Asn2325Ser
XM_011540039.1:c.7037A>G	XP_011538341.1:p.Asn2346Ser
XM_011540040.1:c.7034A>G	XP_011538342.1:p.Asn2345Ser
XM_011540041.1:c.6980A>G	XP_011538343.1:p.Asn2327Ser
XM_011540042.1:c.6950A>G	XP_011538344.1:p.Asn2317Ser
XM_011540043.1:c.7040A>G	XP_011538345.1:p.Asn2347Ser
XM_011540044.1:c.6905A>G	XP_011538346.1:p.Asn2302Ser
XM_011540045.1:c.7040A>G	XP_011538347.1:p.Asn2347Ser
XM_011540046.1:c.6500A>G	XP_011538348.1:p.Asn2167Ser
XM_011540047.1:c.5858A>G	XP_011538349.1:p.Asn1953Ser
XM_011540052.1:c.3368A>G	XP_011538354.1:p.Asn1123Ser
NM_022124.6:c.6845A>G MANE Select	NP_071407.4:p.Asn2282Ser