Canonical Allele Identifier: CA377159986

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73560481T>A (hg19) ; chr10:g.71800724T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71800724T>A , CM000672.2:g.71800724T>A	GRCh38
NC_000010.10:g.73560481T>A , CM000672.1:g.73560481T>A	GRCh37
NC_000010.9:g.73230487T>A	NCBI36
NG_008835.1:g.408778T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7451T>A MANE Select	ENSP00000224721.9:p.Val2484Glu
ENST00000642965.1:c.1384T>A	ENSP00000495222.1:n.1384T>A
ENST00000647092.1:c.1048T>A	ENSP00000495176.1:n.1048T>A
ENST00000224721.10:c.7466T>A	ENSP00000224721.8:p.Val2489Glu
ENST00000398788.4:c.731T>A	ENSP00000381768.3:p.Val244Glu
ENST00000475158.1:n.987T>A
ENST00000619887.4:c.731T>A	ENSP00000478374.1:p.Val244Glu
ENST00000622827.4:c.7451T>A	ENSP00000483211.1:p.Val2484Glu
NM_001171933.1:c.731T>A	NP_001165404.1:p.Val244Glu
NM_001171934.1:c.731T>A	NP_001165405.1:p.Val244Glu
NM_022124.5:c.7451T>A	NP_071407.4:p.Val2484Glu
XM_006717940.2:c.7646T>A	XP_006718003.1:p.Val2549Glu
XM_006717942.2:c.7580T>A	XP_006718005.1:p.Val2527Glu
XM_011540039.1:c.7643T>A	XP_011538341.1:p.Val2548Glu
XM_011540040.1:c.7640T>A	XP_011538342.1:p.Val2547Glu
XM_011540041.1:c.7586T>A	XP_011538343.1:p.Val2529Glu
XM_011540042.1:c.7556T>A	XP_011538344.1:p.Val2519Glu
XM_011540043.1:c.7646T>A	XP_011538345.1:p.Val2549Glu
XM_011540044.1:c.7511T>A	XP_011538346.1:p.Val2504Glu
XM_011540045.1:c.7646T>A	XP_011538347.1:p.Val2549Glu
XM_011540046.1:c.7106T>A	XP_011538348.1:p.Val2369Glu
XM_011540047.1:c.6464T>A	XP_011538349.1:p.Val2155Glu
XM_011540052.1:c.3974T>A	XP_011538354.1:p.Val1325Glu
NM_022124.6:c.7451T>A MANE Select	NP_071407.4:p.Val2484Glu