Canonical Allele Identifier: CA5546655

Gene: CDH23

Linked Data

• dbSNP Id: rs768583951
• ExAC: 10:73567407 C / A
• gnomAD v2: 10-73567407-C-A
• gnomAD v4: 10-71807650-C-A
• MyVariant Identifiers: chr10:g.73567407C>A (hg19) ; chr10:g.71807650C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807650C>A , CM000672.2:g.71807650C>A	GRCh38
NC_000010.10:g.73567407C>A , CM000672.1:g.73567407C>A	GRCh37
NC_000010.9:g.73237413C>A	NCBI36
NG_008835.1:g.415704C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8443C>A MANE Select	ENSP00000224721.9:p.Arg2815Ser
ENST00000642965.1:c.2376C>A	ENSP00000495222.1:n.2376C>A
ENST00000647092.1:c.2040C>A	ENSP00000495176.1:n.2040C>A
ENST00000224721.10:c.8458C>A	ENSP00000224721.8:p.Arg2820Ser
ENST00000398788.4:c.1723C>A	ENSP00000381768.3:p.Arg575Ser
ENST00000475158.1:n.1979C>A
ENST00000619887.4:c.1723C>A	ENSP00000478374.1:p.Arg575Ser
ENST00000622827.4:c.8443C>A	ENSP00000483211.1:p.Arg2815Ser
NM_001171933.1:c.1723C>A	NP_001165404.1:p.Arg575Ser
NM_001171934.1:c.1723C>A	NP_001165405.1:p.Arg575Ser
NM_022124.5:c.8443C>A	NP_071407.4:p.Arg2815Ser
XM_006717940.2:c.8638C>A	XP_006718003.1:p.Arg2880Ser
XM_006717942.2:c.8572C>A	XP_006718005.1:p.Arg2858Ser
XM_011540039.1:c.8635C>A	XP_011538341.1:p.Arg2879Ser
XM_011540040.1:c.8632C>A	XP_011538342.1:p.Arg2878Ser
XM_011540041.1:c.8578C>A	XP_011538343.1:p.Arg2860Ser
XM_011540042.1:c.8548C>A	XP_011538344.1:p.Arg2850Ser
XM_011540043.1:c.8638C>A	XP_011538345.1:p.Arg2880Ser
XM_011540044.1:c.8503C>A	XP_011538346.1:p.Arg2835Ser
XM_011540045.1:c.8638C>A	XP_011538347.1:p.Arg2880Ser
XM_011540046.1:c.8098C>A	XP_011538348.1:p.Arg2700Ser
XM_011540047.1:c.7456C>A	XP_011538349.1:p.Arg2486Ser
XM_011540052.1:c.4966C>A	XP_011538354.1:p.Arg1656Ser
NM_022124.6:c.8443C>A MANE Select	NP_071407.4:p.Arg2815Ser