Canonical Allele Identifier: CA377157768

Gene: CDH23

Linked Data

• dbSNP Id: rs1303315578
• gnomAD v3: 10-71798399-A-C
• gnomAD v4: 10-71798399-A-C
• MyVariant Identifiers: chr10:g.73558156A>C (hg19) ; chr10:g.71798399A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798399A>C , CM000672.2:g.71798399A>C	GRCh38
NC_000010.10:g.73558156A>C , CM000672.1:g.73558156A>C	GRCh37
NC_000010.9:g.73228162A>C	NCBI36
NG_008835.1:g.406453A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6875A>C MANE Select	ENSP00000224721.9:p.Gln2292Pro
ENST00000642965.1:c.808A>C	ENSP00000495222.1:n.808A>C
ENST00000647092.1:c.472A>C	ENSP00000495176.1:n.472A>C
ENST00000224721.10:c.6890A>C	ENSP00000224721.8:p.Gln2297Pro
ENST00000398788.4:c.155A>C	ENSP00000381768.3:p.Gln52Pro
ENST00000475158.1:n.411A>C
ENST00000619887.4:c.155A>C	ENSP00000478374.1:p.Gln52Pro
ENST00000622827.4:c.6875A>C	ENSP00000483211.1:p.Gln2292Pro
NM_001171933.1:c.155A>C	NP_001165404.1:p.Gln52Pro
NM_001171934.1:c.155A>C	NP_001165405.1:p.Gln52Pro
NM_022124.5:c.6875A>C	NP_071407.4:p.Gln2292Pro
XM_006717940.2:c.7070A>C	XP_006718003.1:p.Gln2357Pro
XM_006717942.2:c.7004A>C	XP_006718005.1:p.Gln2335Pro
XM_011540039.1:c.7067A>C	XP_011538341.1:p.Gln2356Pro
XM_011540040.1:c.7064A>C	XP_011538342.1:p.Gln2355Pro
XM_011540041.1:c.7010A>C	XP_011538343.1:p.Gln2337Pro
XM_011540042.1:c.6980A>C	XP_011538344.1:p.Gln2327Pro
XM_011540043.1:c.7070A>C	XP_011538345.1:p.Gln2357Pro
XM_011540044.1:c.6935A>C	XP_011538346.1:p.Gln2312Pro
XM_011540045.1:c.7070A>C	XP_011538347.1:p.Gln2357Pro
XM_011540046.1:c.6530A>C	XP_011538348.1:p.Gln2177Pro
XM_011540047.1:c.5888A>C	XP_011538349.1:p.Gln1963Pro
XM_011540052.1:c.3398A>C	XP_011538354.1:p.Gln1133Pro
NM_022124.6:c.6875A>C MANE Select	NP_071407.4:p.Gln2292Pro