Canonical Allele Identifier: CA470062000

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2717331
• ClinVar RCV Id: RCV003548738
• dbSNP Id: rs1201598342
• gnomAD v3: 10-71798424-C-T
• gnomAD v4: 10-71798424-C-T
• MyVariant Identifiers: chr10:g.73558181C>T (hg19) ; chr10:g.71798424C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798424C>T , CM000672.2:g.71798424C>T	GRCh38
NC_000010.10:g.73558181C>T , CM000672.1:g.73558181C>T	GRCh37
NC_000010.9:g.73228187C>T	NCBI36
NG_008835.1:g.406478C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6900C>T MANE Select	ENSP00000224721.9:p.Tyr2300=
ENST00000642965.1:c.833C>T	ENSP00000495222.1:n.833C>T
ENST00000647092.1:c.497C>T	ENSP00000495176.1:n.497C>T
ENST00000224721.10:c.6915C>T	ENSP00000224721.8:p.Tyr2305=
ENST00000398788.4:c.180C>T	ENSP00000381768.3:p.Tyr60=
ENST00000475158.1:n.436C>T
ENST00000619887.4:c.180C>T	ENSP00000478374.1:p.Tyr60=
ENST00000622827.4:c.6900C>T	ENSP00000483211.1:p.Tyr2300=
NM_001171933.1:c.180C>T	NP_001165404.1:p.Tyr60=
NM_001171934.1:c.180C>T	NP_001165405.1:p.Tyr60=
NM_022124.5:c.6900C>T	NP_071407.4:p.Tyr2300=
XM_006717940.2:c.7095C>T	XP_006718003.1:p.Tyr2365=
XM_006717942.2:c.7029C>T	XP_006718005.1:p.Tyr2343=
XM_011540039.1:c.7092C>T	XP_011538341.1:p.Tyr2364=
XM_011540040.1:c.7089C>T	XP_011538342.1:p.Tyr2363=
XM_011540041.1:c.7035C>T	XP_011538343.1:p.Tyr2345=
XM_011540042.1:c.7005C>T	XP_011538344.1:p.Tyr2335=
XM_011540043.1:c.7095C>T	XP_011538345.1:p.Tyr2365=
XM_011540044.1:c.6960C>T	XP_011538346.1:p.Tyr2320=
XM_011540045.1:c.7095C>T	XP_011538347.1:p.Tyr2365=
XM_011540046.1:c.6555C>T	XP_011538348.1:p.Tyr2185=
XM_011540047.1:c.5913C>T	XP_011538349.1:p.Tyr1971=
XM_011540052.1:c.3423C>T	XP_011538354.1:p.Tyr1141=
NM_022124.6:c.6900C>T MANE Select	NP_071407.4:p.Tyr2300=