Canonical Allele Identifier: CA377159813

Gene: CDH23

Linked Data

• gnomAD v4: 10-71800643-T-C
• MyVariant Identifiers: chr10:g.73560400T>C (hg19) ; chr10:g.71800643T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71800643T>C , CM000672.2:g.71800643T>C	GRCh38
NC_000010.10:g.73560400T>C , CM000672.1:g.73560400T>C	GRCh37
NC_000010.9:g.73230406T>C	NCBI36
NG_008835.1:g.408697T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7370T>C MANE Select	ENSP00000224721.9:p.Ile2457Thr
ENST00000642965.1:c.1303T>C	ENSP00000495222.1:n.1303T>C
ENST00000647092.1:c.967T>C	ENSP00000495176.1:n.967T>C
ENST00000224721.10:c.7385T>C	ENSP00000224721.8:p.Ile2462Thr
ENST00000398788.4:c.650T>C	ENSP00000381768.3:p.Ile217Thr
ENST00000475158.1:n.906T>C
ENST00000619887.4:c.650T>C	ENSP00000478374.1:p.Ile217Thr
ENST00000622827.4:c.7370T>C	ENSP00000483211.1:p.Ile2457Thr
NM_001171933.1:c.650T>C	NP_001165404.1:p.Ile217Thr
NM_001171934.1:c.650T>C	NP_001165405.1:p.Ile217Thr
NM_022124.5:c.7370T>C	NP_071407.4:p.Ile2457Thr
XM_006717940.2:c.7565T>C	XP_006718003.1:p.Ile2522Thr
XM_006717942.2:c.7499T>C	XP_006718005.1:p.Ile2500Thr
XM_011540039.1:c.7562T>C	XP_011538341.1:p.Ile2521Thr
XM_011540040.1:c.7559T>C	XP_011538342.1:p.Ile2520Thr
XM_011540041.1:c.7505T>C	XP_011538343.1:p.Ile2502Thr
XM_011540042.1:c.7475T>C	XP_011538344.1:p.Ile2492Thr
XM_011540043.1:c.7565T>C	XP_011538345.1:p.Ile2522Thr
XM_011540044.1:c.7430T>C	XP_011538346.1:p.Ile2477Thr
XM_011540045.1:c.7565T>C	XP_011538347.1:p.Ile2522Thr
XM_011540046.1:c.7025T>C	XP_011538348.1:p.Ile2342Thr
XM_011540047.1:c.6383T>C	XP_011538349.1:p.Ile2128Thr
XM_011540052.1:c.3893T>C	XP_011538354.1:p.Ile1298Thr
NM_022124.6:c.7370T>C MANE Select	NP_071407.4:p.Ile2457Thr