Canonical Allele Identifier: CA5546215

Gene: CDH23

Linked Data

• dbSNP Id: rs749609839
• ExAC: 10:73558154 C / T
• gnomAD v2: 10-73558154-C-T
• MyVariant Identifiers: chr10:g.73558154C>T (hg19) ; chr10:g.71798397C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798397C>T , CM000672.2:g.71798397C>T	GRCh38
NC_000010.10:g.73558154C>T , CM000672.1:g.73558154C>T	GRCh37
NC_000010.9:g.73228160C>T	NCBI36
NG_008835.1:g.406451C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6873C>T MANE Select	ENSP00000224721.9:p.Pro2291=
ENST00000642965.1:c.806C>T	ENSP00000495222.1:n.806C>T
ENST00000647092.1:c.470C>T	ENSP00000495176.1:n.470C>T
ENST00000224721.10:c.6888C>T	ENSP00000224721.8:p.Pro2296=
ENST00000398788.4:c.153C>T	ENSP00000381768.3:p.Pro51=
ENST00000475158.1:n.409C>T
ENST00000619887.4:c.153C>T	ENSP00000478374.1:p.Pro51=
ENST00000622827.4:c.6873C>T	ENSP00000483211.1:p.Pro2291=
NM_001171933.1:c.153C>T	NP_001165404.1:p.Pro51=
NM_001171934.1:c.153C>T	NP_001165405.1:p.Pro51=
NM_022124.5:c.6873C>T	NP_071407.4:p.Pro2291=
XM_006717940.2:c.7068C>T	XP_006718003.1:p.Pro2356=
XM_006717942.2:c.7002C>T	XP_006718005.1:p.Pro2334=
XM_011540039.1:c.7065C>T	XP_011538341.1:p.Pro2355=
XM_011540040.1:c.7062C>T	XP_011538342.1:p.Pro2354=
XM_011540041.1:c.7008C>T	XP_011538343.1:p.Pro2336=
XM_011540042.1:c.6978C>T	XP_011538344.1:p.Pro2326=
XM_011540043.1:c.7068C>T	XP_011538345.1:p.Pro2356=
XM_011540044.1:c.6933C>T	XP_011538346.1:p.Pro2311=
XM_011540045.1:c.7068C>T	XP_011538347.1:p.Pro2356=
XM_011540046.1:c.6528C>T	XP_011538348.1:p.Pro2176=
XM_011540047.1:c.5886C>T	XP_011538349.1:p.Pro1962=
XM_011540052.1:c.3396C>T	XP_011538354.1:p.Pro1132=
NM_022124.6:c.6873C>T MANE Select	NP_071407.4:p.Pro2291=