Canonical Allele Identifier: CA10632016

Gene: CDH23 C10orf105

Linked Data

• ClinVar Variation Id: 300428
• ClinVar RCV Id: RCV000307044 ; RCV000346648 ; RCV002059557 ; RCV004529511
• dbSNP Id: rs886047136
• gnomAD v4: 10-71732276-C-G
• MyVariant Identifiers: chr10:g.73492033C>G (hg19) ; chr10:g.71732276C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71732276C>G , CM000672.2:g.71732276C>G	GRCh38
NC_000010.10:g.73492033C>G , CM000672.1:g.73492033C>G	GRCh37
NC_000010.9:g.73162039C>G	NCBI36
NG_008835.1:g.340330C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.4005C>G (CDH23) MANE Select	ENSP00000224721.9:p.Val1335=
ENST00000398809.9:c.4002C>G (CDH23)	ENSP00000381789.5:p.Val1334=
ENST00000224721.10:c.4020C>G (CDH23)	ENSP00000224721.8:p.Val1340=
ENST00000398786.2:c.-6+5452G>C (C10orf105)	ENSP00000381766.3:n.-6+5452G>C
ENST00000398792.3:n.697C>G (CDH23)
ENST00000398809.8:c.4002C>G (CDH23)	ENSP00000381789.5:p.Val1334=
ENST00000616684.4:c.4005C>G (CDH23)	ENSP00000482036.2:p.Val1335=
ENST00000622827.4:c.4005C>G (CDH23)	ENSP00000483211.1:p.Val1335=
NM_001168390.1:c.-6+5452G>C (C10orf105)	NP_001161862.1:n.-6+5452G>C
NM_001171930.1:c.4005C>G (CDH23)	NP_001165401.1:p.Val1335=
NM_022124.5:c.4005C>G (CDH23)	NP_071407.4:p.Val1335=
XM_006717940.2:c.4200C>G (CDH23)	XP_006718003.1:p.Val1400=
XM_006717942.2:c.4134C>G (CDH23)	XP_006718005.1:p.Val1378=
XM_011540039.1:c.4200C>G (CDH23)	XP_011538341.1:p.Val1400=
XM_011540040.1:c.4194C>G (CDH23)	XP_011538342.1:p.Val1398=
XM_011540041.1:c.4140C>G (CDH23)	XP_011538343.1:p.Val1380=
XM_011540042.1:c.4200C>G (CDH23)	XP_011538344.1:p.Val1400=
XM_011540043.1:c.4200C>G (CDH23)	XP_011538345.1:p.Val1400=
XM_011540044.1:c.4065C>G (CDH23)	XP_011538346.1:p.Val1355=
XM_011540045.1:c.4200C>G (CDH23)	XP_011538347.1:p.Val1400=
XM_011540046.1:c.3660C>G (CDH23)	XP_011538348.1:p.Val1220=
XM_011540047.1:c.3018C>G (CDH23)	XP_011538349.1:p.Val1006=
XM_011540048.1:c.4200C>G (CDH23)	XP_011538350.1:p.Val1400=
XM_011540049.1:c.4200C>G (CDH23)	XP_011538351.1:p.Val1400=
XM_011540050.1:c.4200C>G (CDH23)	XP_011538352.1:p.Val1400=
XM_011540051.1:c.4200C>G (CDH23)	XP_011538353.1:p.Val1400=
XM_011540052.1:c.528C>G (CDH23)	XP_011538354.1:p.Val176=
XM_011540053.1:c.4200C>G (CDH23)	XP_011538355.1:p.Val1400=
XR_945796.1:n.4443C>G (CDH23)
NM_001168390.2:c.-6+5452G>C (C10orf105)	NP_001161862.1:n.-6+5452G>C
NM_001171930.2:c.4005C>G (CDH23)	NP_001165401.1:p.Val1335=
NM_022124.6:c.4005C>G (CDH23) MANE Select	NP_071407.4:p.Val1335=