Canonical Allele Identifier: CA16618980

Gene: CDH23 C10orf105

Linked Data

• ClinVar Variation Id: 420498
• ClinVar RCV Id: RCV000485994 ; RCV001834562
• dbSNP Id: rs1064794520
• MyVariant Identifiers: chr10:g.73472451G>T (hg19) ; chr10:g.71712694G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71712694G>T , CM000672.2:g.71712694G>T	GRCh38
NC_000010.10:g.73472451G>T , CM000672.1:g.73472451G>T	GRCh37
NC_000010.9:g.73142457G>T	NCBI36
NG_008835.1:g.320748G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.3250G>T (CDH23) MANE Select	ENSP00000224721.9:p.Gly1084Cys
ENST00000398809.9:c.3250G>T (CDH23)	ENSP00000381789.5:p.Gly1084Cys
ENST00000441508.4:c.*3242C>A (C10orf105) MANE Select	ENSP00000403151.2:n.*3242C>A
ENST00000442677.4:c.3250G>T (CDH23)	ENSP00000388894.3:p.Gly1084Cys
ENST00000466757.8:c.2681G>T (CDH23)
ENST00000224721.10:c.3265G>T (CDH23)	ENSP00000224721.8:p.Gly1089Cys
ENST00000398786.2:c.*3242C>A (C10orf105)	ENSP00000381766.3:n.*3242C>A
ENST00000398792.3:n.91G>T (CDH23)
ENST00000398809.8:c.3250G>T (CDH23)	ENSP00000381789.5:p.Gly1084Cys
ENST00000441508.2:c.*3242C>A (C10orf105)	ENSP00000403151.2:n.*3242C>A
ENST00000442677.3:c.2025G>T (CDH23)
ENST00000466757.7:c.2681G>T (CDH23)
ENST00000616684.4:c.3250G>T (CDH23)	ENSP00000482036.2:p.Gly1084Cys
ENST00000622827.4:c.3250G>T (CDH23)	ENSP00000483211.1:p.Gly1084Cys
NM_001164375.2:c.*3242C>A (C10orf105)	NP_001157847.1:n.*3242C>A
NM_001168390.1:c.*3242C>A (C10orf105)	NP_001161862.1:n.*3242C>A
NM_001171930.1:c.3250G>T (CDH23)	NP_001165401.1:p.Gly1084Cys
NM_022124.5:c.3250G>T (CDH23)	NP_071407.4:p.Gly1084Cys
XM_006717940.2:c.3445G>T (CDH23)	XP_006718003.1:p.Gly1149Cys
XM_006717942.2:c.3379G>T (CDH23)	XP_006718005.1:p.Gly1127Cys
XM_011540039.1:c.3445G>T (CDH23)	XP_011538341.1:p.Gly1149Cys
XM_011540040.1:c.3439G>T (CDH23)	XP_011538342.1:p.Gly1147Cys
XM_011540041.1:c.3385G>T (CDH23)	XP_011538343.1:p.Gly1129Cys
XM_011540042.1:c.3445G>T (CDH23)	XP_011538344.1:p.Gly1149Cys
XM_011540043.1:c.3445G>T (CDH23)	XP_011538345.1:p.Gly1149Cys
XM_011540044.1:c.3310G>T (CDH23)	XP_011538346.1:p.Gly1104Cys
XM_011540045.1:c.3445G>T (CDH23)	XP_011538347.1:p.Gly1149Cys
XM_011540046.1:c.2905G>T (CDH23)	XP_011538348.1:p.Gly969Cys
XM_011540047.1:c.2263G>T (CDH23)	XP_011538349.1:p.Gly755Cys
XM_011540048.1:c.3445G>T (CDH23)	XP_011538350.1:p.Gly1149Cys
XM_011540049.1:c.3445G>T (CDH23)	XP_011538351.1:p.Gly1149Cys
XM_011540050.1:c.3445G>T (CDH23)	XP_011538352.1:p.Gly1149Cys
XM_011540051.1:c.3445G>T (CDH23)	XP_011538353.1:p.Gly1149Cys
XM_011540053.1:c.3445G>T (CDH23)	XP_011538355.1:p.Gly1149Cys
XR_945796.1:n.3688G>T (CDH23)
XM_011539808.2:c.*3242C>A (C10orf105)	XP_011538110.1:n.*3242C>A
XM_011539809.2:c.*3242C>A (C10orf105)	XP_011538111.1:n.*3242C>A
NM_001164375.3:c.*3242C>A (C10orf105) MANE Select	NP_001157847.1:n.*3242C>A
NM_001168390.2:c.*3242C>A (C10orf105)	NP_001161862.1:n.*3242C>A
NM_001171930.2:c.3250G>T (CDH23)	NP_001165401.1:p.Gly1084Cys
NM_022124.6:c.3250G>T (CDH23) MANE Select	NP_071407.4:p.Gly1084Cys