Canonical Allele Identifier: CA377158073

Gene: CDH23

Linked Data

• gnomAD v4: 10-71798488-G-T
• MyVariant Identifiers: chr10:g.73558245G>T (hg19) ; chr10:g.71798488G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798488G>T , CM000672.2:g.71798488G>T	GRCh38
NC_000010.10:g.73558245G>T , CM000672.1:g.73558245G>T	GRCh37
NC_000010.9:g.73228251G>T	NCBI36
NG_008835.1:g.406542G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6964G>T MANE Select	ENSP00000224721.9:p.Asp2322Tyr
ENST00000642965.1:c.897G>T	ENSP00000495222.1:n.897G>T
ENST00000647092.1:c.561G>T	ENSP00000495176.1:n.561G>T
ENST00000224721.10:c.6979G>T	ENSP00000224721.8:p.Asp2327Tyr
ENST00000398788.4:c.244G>T	ENSP00000381768.3:p.Asp82Tyr
ENST00000475158.1:n.500G>T
ENST00000619887.4:c.244G>T	ENSP00000478374.1:p.Asp82Tyr
ENST00000622827.4:c.6964G>T	ENSP00000483211.1:p.Asp2322Tyr
NM_001171933.1:c.244G>T	NP_001165404.1:p.Asp82Tyr
NM_001171934.1:c.244G>T	NP_001165405.1:p.Asp82Tyr
NM_022124.5:c.6964G>T	NP_071407.4:p.Asp2322Tyr
XM_006717940.2:c.7159G>T	XP_006718003.1:p.Asp2387Tyr
XM_006717942.2:c.7093G>T	XP_006718005.1:p.Asp2365Tyr
XM_011540039.1:c.7156G>T	XP_011538341.1:p.Asp2386Tyr
XM_011540040.1:c.7153G>T	XP_011538342.1:p.Asp2385Tyr
XM_011540041.1:c.7099G>T	XP_011538343.1:p.Asp2367Tyr
XM_011540042.1:c.7069G>T	XP_011538344.1:p.Asp2357Tyr
XM_011540043.1:c.7159G>T	XP_011538345.1:p.Asp2387Tyr
XM_011540044.1:c.7024G>T	XP_011538346.1:p.Asp2342Tyr
XM_011540045.1:c.7159G>T	XP_011538347.1:p.Asp2387Tyr
XM_011540046.1:c.6619G>T	XP_011538348.1:p.Asp2207Tyr
XM_011540047.1:c.5977G>T	XP_011538349.1:p.Asp1993Tyr
XM_011540052.1:c.3487G>T	XP_011538354.1:p.Asp1163Tyr
NM_022124.6:c.6964G>T MANE Select	NP_071407.4:p.Asp2322Tyr