Canonical Allele Identifier: CA377131480

Gene: CDH23

Linked Data

• dbSNP Id: rs2132989065
• gnomAD v4: 10-71807612-T-A
• MyVariant Identifiers: chr10:g.73567369T>A (hg19) ; chr10:g.71807612T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807612T>A , CM000672.2:g.71807612T>A	GRCh38
NC_000010.10:g.73567369T>A , CM000672.1:g.73567369T>A	GRCh37
NC_000010.9:g.73237375T>A	NCBI36
NG_008835.1:g.415666T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8405T>A MANE Select	ENSP00000224721.9:p.Ile2802Asn
ENST00000642965.1:c.2338T>A	ENSP00000495222.1:n.2338T>A
ENST00000647092.1:c.2002T>A	ENSP00000495176.1:n.2002T>A
ENST00000224721.10:c.8420T>A	ENSP00000224721.8:p.Ile2807Asn
ENST00000398788.4:c.1685T>A	ENSP00000381768.3:p.Ile562Asn
ENST00000475158.1:n.1941T>A
ENST00000619887.4:c.1685T>A	ENSP00000478374.1:p.Ile562Asn
ENST00000622827.4:c.8405T>A	ENSP00000483211.1:p.Ile2802Asn
NM_001171933.1:c.1685T>A	NP_001165404.1:p.Ile562Asn
NM_001171934.1:c.1685T>A	NP_001165405.1:p.Ile562Asn
NM_022124.5:c.8405T>A	NP_071407.4:p.Ile2802Asn
XM_006717940.2:c.8600T>A	XP_006718003.1:p.Ile2867Asn
XM_006717942.2:c.8534T>A	XP_006718005.1:p.Ile2845Asn
XM_011540039.1:c.8597T>A	XP_011538341.1:p.Ile2866Asn
XM_011540040.1:c.8594T>A	XP_011538342.1:p.Ile2865Asn
XM_011540041.1:c.8540T>A	XP_011538343.1:p.Ile2847Asn
XM_011540042.1:c.8510T>A	XP_011538344.1:p.Ile2837Asn
XM_011540043.1:c.8600T>A	XP_011538345.1:p.Ile2867Asn
XM_011540044.1:c.8465T>A	XP_011538346.1:p.Ile2822Asn
XM_011540045.1:c.8600T>A	XP_011538347.1:p.Ile2867Asn
XM_011540046.1:c.8060T>A	XP_011538348.1:p.Ile2687Asn
XM_011540047.1:c.7418T>A	XP_011538349.1:p.Ile2473Asn
XM_011540052.1:c.4928T>A	XP_011538354.1:p.Ile1643Asn
NM_022124.6:c.8405T>A MANE Select	NP_071407.4:p.Ile2802Asn