Canonical Allele Identifier: CA209437115

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2286569
• ClinVar RCV Id: RCV002859231
• dbSNP Id: rs894021876
• MyVariant Identifiers: chr10:g.73567380T>A (hg19) ; chr10:g.71807623T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807623T>A , CM000672.2:g.71807623T>A	GRCh38
NC_000010.10:g.73567380T>A , CM000672.1:g.73567380T>A	GRCh37
NC_000010.9:g.73237386T>A	NCBI36
NG_008835.1:g.415677T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8416T>A MANE Select	ENSP00000224721.9:p.Ser2806Thr
ENST00000642965.1:c.2349T>A	ENSP00000495222.1:n.2349T>A
ENST00000647092.1:c.2013T>A	ENSP00000495176.1:n.2013T>A
ENST00000224721.10:c.8431T>A	ENSP00000224721.8:p.Ser2811Thr
ENST00000398788.4:c.1696T>A	ENSP00000381768.3:p.Ser566Thr
ENST00000475158.1:n.1952T>A
ENST00000619887.4:c.1696T>A	ENSP00000478374.1:p.Ser566Thr
ENST00000622827.4:c.8416T>A	ENSP00000483211.1:p.Ser2806Thr
NM_001171933.1:c.1696T>A	NP_001165404.1:p.Ser566Thr
NM_001171934.1:c.1696T>A	NP_001165405.1:p.Ser566Thr
NM_022124.5:c.8416T>A	NP_071407.4:p.Ser2806Thr
XM_006717940.2:c.8611T>A	XP_006718003.1:p.Ser2871Thr
XM_006717942.2:c.8545T>A	XP_006718005.1:p.Ser2849Thr
XM_011540039.1:c.8608T>A	XP_011538341.1:p.Ser2870Thr
XM_011540040.1:c.8605T>A	XP_011538342.1:p.Ser2869Thr
XM_011540041.1:c.8551T>A	XP_011538343.1:p.Ser2851Thr
XM_011540042.1:c.8521T>A	XP_011538344.1:p.Ser2841Thr
XM_011540043.1:c.8611T>A	XP_011538345.1:p.Ser2871Thr
XM_011540044.1:c.8476T>A	XP_011538346.1:p.Ser2826Thr
XM_011540045.1:c.8611T>A	XP_011538347.1:p.Ser2871Thr
XM_011540046.1:c.8071T>A	XP_011538348.1:p.Ser2691Thr
XM_011540047.1:c.7429T>A	XP_011538349.1:p.Ser2477Thr
XM_011540052.1:c.4939T>A	XP_011538354.1:p.Ser1647Thr
NM_022124.6:c.8416T>A MANE Select	NP_071407.4:p.Ser2806Thr