Canonical Allele Identifier: CA182785

Gene: CDH23 C10orf105

Linked Data

• ClinVar Variation Id: 178685
• ClinVar RCV Id: RCV001171524 ; RCV001239311 ; RCV001831967
• dbSNP Id: rs373276722
• ExAC: 10:73492028 C / T
• gnomAD v2: 10-73492028-C-T
• gnomAD v3: 10-71732271-C-T
• gnomAD v4: 10-71732271-C-T
• MyVariant Identifiers: chr10:g.73492028C>T (hg19) ; chr10:g.71732271C>T (hg38)
• ERepo: CA182785/MONDO:0019501/005

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71732271C>T , CM000672.2:g.71732271C>T	GRCh38
NC_000010.10:g.73492028C>T , CM000672.1:g.73492028C>T	GRCh37
NC_000010.9:g.73162034C>T	NCBI36
NG_008835.1:g.340325C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.4000C>T (CDH23) MANE Select	ENSP00000224721.9:p.Arg1334Trp
ENST00000398809.9:c.3997C>T (CDH23)	ENSP00000381789.5:p.Arg1333Trp
ENST00000224721.10:c.4015C>T (CDH23)	ENSP00000224721.8:p.Arg1339Trp
ENST00000398786.2:c.-6+5457G>A (C10orf105)	ENSP00000381766.3:n.-6+5457G>A
ENST00000398792.3:n.692C>T (CDH23)
ENST00000398809.8:c.3997C>T (CDH23)	ENSP00000381789.5:p.Arg1333Trp
ENST00000616684.4:c.4000C>T (CDH23)	ENSP00000482036.2:p.Arg1334Trp
ENST00000622827.4:c.4000C>T (CDH23)	ENSP00000483211.1:p.Arg1334Trp
NM_001168390.1:c.-6+5457G>A (C10orf105)	NP_001161862.1:n.-6+5457G>A
NM_001171930.1:c.4000C>T (CDH23)	NP_001165401.1:p.Arg1334Trp
NM_022124.5:c.4000C>T (CDH23)	NP_071407.4:p.Arg1334Trp
XM_006717940.2:c.4195C>T (CDH23)	XP_006718003.1:p.Arg1399Trp
XM_006717942.2:c.4129C>T (CDH23)	XP_006718005.1:p.Arg1377Trp
XM_011540039.1:c.4195C>T (CDH23)	XP_011538341.1:p.Arg1399Trp
XM_011540040.1:c.4189C>T (CDH23)	XP_011538342.1:p.Arg1397Trp
XM_011540041.1:c.4135C>T (CDH23)	XP_011538343.1:p.Arg1379Trp
XM_011540042.1:c.4195C>T (CDH23)	XP_011538344.1:p.Arg1399Trp
XM_011540043.1:c.4195C>T (CDH23)	XP_011538345.1:p.Arg1399Trp
XM_011540044.1:c.4060C>T (CDH23)	XP_011538346.1:p.Arg1354Trp
XM_011540045.1:c.4195C>T (CDH23)	XP_011538347.1:p.Arg1399Trp
XM_011540046.1:c.3655C>T (CDH23)	XP_011538348.1:p.Arg1219Trp
XM_011540047.1:c.3013C>T (CDH23)	XP_011538349.1:p.Arg1005Trp
XM_011540048.1:c.4195C>T (CDH23)	XP_011538350.1:p.Arg1399Trp
XM_011540049.1:c.4195C>T (CDH23)	XP_011538351.1:p.Arg1399Trp
XM_011540050.1:c.4195C>T (CDH23)	XP_011538352.1:p.Arg1399Trp
XM_011540051.1:c.4195C>T (CDH23)	XP_011538353.1:p.Arg1399Trp
XM_011540052.1:c.523C>T (CDH23)	XP_011538354.1:p.Arg175Trp
XM_011540053.1:c.4195C>T (CDH23)	XP_011538355.1:p.Arg1399Trp
XR_945796.1:n.4438C>T (CDH23)
NM_001168390.2:c.-6+5457G>A (C10orf105)	NP_001161862.1:n.-6+5457G>A
NM_001171930.2:c.4000C>T (CDH23)	NP_001165401.1:p.Arg1334Trp
NM_022124.6:c.4000C>T (CDH23) MANE Select	NP_071407.4:p.Arg1334Trp