Canonical Allele Identifier: CA470282072

Gene: CDH23

Linked Data

• gnomAD v4: 10-71799533-G-A
• MyVariant Identifiers: chr10:g.73559290G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799533G>A , CM000672.2:g.71799533G>A	GRCh38
NC_000010.10:g.73559290G>A , CM000672.1:g.73559290G>A	GRCh37
NC_000010.9:g.73229296G>A	NCBI36
NG_008835.1:g.407587G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7266G>A MANE Select	ENSP00000224721.9:p.Leu2422=
ENST00000642965.1:c.1199G>A	ENSP00000495222.1:n.1199G>A
ENST00000647092.1:c.863G>A	ENSP00000495176.1:n.863G>A
ENST00000224721.10:c.7281G>A	ENSP00000224721.8:p.Leu2427=
ENST00000398788.4:c.546G>A	ENSP00000381768.3:p.Leu182=
ENST00000475158.1:n.802G>A
ENST00000619887.4:c.546G>A	ENSP00000478374.1:p.Leu182=
ENST00000622827.4:c.7266G>A	ENSP00000483211.1:p.Leu2422=
NM_001171933.1:c.546G>A	NP_001165404.1:p.Leu182=
NM_001171934.1:c.546G>A	NP_001165405.1:p.Leu182=
NM_022124.5:c.7266G>A	NP_071407.4:p.Leu2422=
XM_006717940.2:c.7461G>A	XP_006718003.1:p.Leu2487=
XM_006717942.2:c.7395G>A	XP_006718005.1:p.Leu2465=
XM_011540039.1:c.7458G>A	XP_011538341.1:p.Leu2486=
XM_011540040.1:c.7455G>A	XP_011538342.1:p.Leu2485=
XM_011540041.1:c.7401G>A	XP_011538343.1:p.Leu2467=
XM_011540042.1:c.7371G>A	XP_011538344.1:p.Leu2457=
XM_011540043.1:c.7461G>A	XP_011538345.1:p.Leu2487=
XM_011540044.1:c.7326G>A	XP_011538346.1:p.Leu2442=
XM_011540045.1:c.7461G>A	XP_011538347.1:p.Leu2487=
XM_011540046.1:c.6921G>A	XP_011538348.1:p.Leu2307=
XM_011540047.1:c.6279G>A	XP_011538349.1:p.Leu2093=
XM_011540052.1:c.3789G>A	XP_011538354.1:p.Leu1263=
NM_022124.6:c.7266G>A MANE Select	NP_071407.4:p.Leu2422=