Canonical Allele Identifier: CA377159297

Gene: CDH23

Linked Data

• dbSNP Id: rs1292403564
• gnomAD v2: 10-73559294-G-C
• gnomAD v4: 10-71799537-G-C
• MyVariant Identifiers: chr10:g.73559294G>C (hg19) ; chr10:g.71799537G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799537G>C , CM000672.2:g.71799537G>C	GRCh38
NC_000010.10:g.73559294G>C , CM000672.1:g.73559294G>C	GRCh37
NC_000010.9:g.73229300G>C	NCBI36
NG_008835.1:g.407591G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7270G>C MANE Select	ENSP00000224721.9:p.Val2424Leu
ENST00000642965.1:c.1203G>C	ENSP00000495222.1:n.1203G>C
ENST00000647092.1:c.867G>C	ENSP00000495176.1:n.867G>C
ENST00000224721.10:c.7285G>C	ENSP00000224721.8:p.Val2429Leu
ENST00000398788.4:c.550G>C	ENSP00000381768.3:p.Val184Leu
ENST00000475158.1:n.806G>C
ENST00000619887.4:c.550G>C	ENSP00000478374.1:p.Val184Leu
ENST00000622827.4:c.7270G>C	ENSP00000483211.1:p.Val2424Leu
NM_001171933.1:c.550G>C	NP_001165404.1:p.Val184Leu
NM_001171934.1:c.550G>C	NP_001165405.1:p.Val184Leu
NM_022124.5:c.7270G>C	NP_071407.4:p.Val2424Leu
XM_006717940.2:c.7465G>C	XP_006718003.1:p.Val2489Leu
XM_006717942.2:c.7399G>C	XP_006718005.1:p.Val2467Leu
XM_011540039.1:c.7462G>C	XP_011538341.1:p.Val2488Leu
XM_011540040.1:c.7459G>C	XP_011538342.1:p.Val2487Leu
XM_011540041.1:c.7405G>C	XP_011538343.1:p.Val2469Leu
XM_011540042.1:c.7375G>C	XP_011538344.1:p.Val2459Leu
XM_011540043.1:c.7465G>C	XP_011538345.1:p.Val2489Leu
XM_011540044.1:c.7330G>C	XP_011538346.1:p.Val2444Leu
XM_011540045.1:c.7465G>C	XP_011538347.1:p.Val2489Leu
XM_011540046.1:c.6925G>C	XP_011538348.1:p.Val2309Leu
XM_011540047.1:c.6283G>C	XP_011538349.1:p.Val2095Leu
XM_011540052.1:c.3793G>C	XP_011538354.1:p.Val1265Leu
NM_022124.6:c.7270G>C MANE Select	NP_071407.4:p.Val2424Leu