Canonical Allele Identifier: CA377161559

Gene: CDH23

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71803371G>C , CM000672.2:g.71803371G>C	GRCh38
NC_000010.10:g.73563128G>C , CM000672.1:g.73563128G>C	GRCh37
NC_000010.9:g.73233134G>C	NCBI36
NG_008835.1:g.411425G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7823G>C MANE Select	ENSP00000224721.9:p.Arg2608Pro
ENST00000642965.1:c.1756G>C	ENSP00000495222.1:n.1756G>C
ENST00000647092.1:c.1420G>C	ENSP00000495176.1:n.1420G>C
ENST00000224721.10:c.7838G>C	ENSP00000224721.8:p.Arg2613Pro
ENST00000398788.4:c.1103G>C	ENSP00000381768.3:p.Arg368Pro
ENST00000475158.1:n.1359G>C
ENST00000619887.4:c.1103G>C	ENSP00000478374.1:p.Arg368Pro
ENST00000622827.4:c.7823G>C	ENSP00000483211.1:p.Arg2608Pro
NM_001171933.1:c.1103G>C	NP_001165404.1:p.Arg368Pro
NM_001171934.1:c.1103G>C	NP_001165405.1:p.Arg368Pro
NM_022124.5:c.7823G>C	NP_071407.4:p.Arg2608Pro
XM_006717940.2:c.8018G>C	XP_006718003.1:p.Arg2673Pro
XM_006717942.2:c.7952G>C	XP_006718005.1:p.Arg2651Pro
XM_011540039.1:c.8015G>C	XP_011538341.1:p.Arg2672Pro
XM_011540040.1:c.8012G>C	XP_011538342.1:p.Arg2671Pro
XM_011540041.1:c.7958G>C	XP_011538343.1:p.Arg2653Pro
XM_011540042.1:c.7928G>C	XP_011538344.1:p.Arg2643Pro
XM_011540043.1:c.8018G>C	XP_011538345.1:p.Arg2673Pro
XM_011540044.1:c.7883G>C	XP_011538346.1:p.Arg2628Pro
XM_011540045.1:c.8018G>C	XP_011538347.1:p.Arg2673Pro
XM_011540046.1:c.7478G>C	XP_011538348.1:p.Arg2493Pro
XM_011540047.1:c.6836G>C	XP_011538349.1:p.Arg2279Pro
XM_011540052.1:c.4346G>C	XP_011538354.1:p.Arg1449Pro
NM_022124.6:c.7823G>C MANE Select	NP_071407.4:p.Arg2608Pro