Canonical Allele Identifier: CA233645

Gene: CDH23 C10orf105

Linked Data

• ClinVar Variation Id: 166812
• ClinVar RCV Id: RCV000152947 ; RCV000281132 ; RCV000338523
• dbSNP Id: rs199510686
• ExAC: 10:73472502 A / G
• gnomAD v2: 10-73472502-A-G
• gnomAD v3: 10-71712745-A-G
• gnomAD v4: 10-71712745-A-G
• MyVariant Identifiers: chr10:g.73472502A>G (hg19) ; chr10:g.71712745A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71712745A>G , CM000672.2:g.71712745A>G	GRCh38
NC_000010.10:g.73472502A>G , CM000672.1:g.73472502A>G	GRCh37
NC_000010.9:g.73142508A>G	NCBI36
NG_008835.1:g.320799A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.3301A>G (CDH23) MANE Select	ENSP00000224721.9:p.Ile1101Val
ENST00000398809.9:c.3301A>G (CDH23)	ENSP00000381789.5:p.Ile1101Val
ENST00000441508.4:c.*3191T>C (C10orf105) MANE Select	ENSP00000403151.2:n.*3191T>C
ENST00000442677.4:c.3301A>G (CDH23)	ENSP00000388894.3:p.Ile1101Val
ENST00000466757.8:c.2732A>G (CDH23)
ENST00000224721.10:c.3316A>G (CDH23)	ENSP00000224721.8:p.Ile1106Val
ENST00000398786.2:c.*3191T>C (C10orf105)	ENSP00000381766.3:n.*3191T>C
ENST00000398792.3:n.142A>G (CDH23)
ENST00000398809.8:c.3301A>G (CDH23)	ENSP00000381789.5:p.Ile1101Val
ENST00000441508.2:c.*3191T>C (C10orf105)	ENSP00000403151.2:n.*3191T>C
ENST00000442677.3:c.2076A>G (CDH23)
ENST00000466757.7:c.2732A>G (CDH23)
ENST00000616684.4:c.3301A>G (CDH23)	ENSP00000482036.2:p.Ile1101Val
ENST00000622827.4:c.3301A>G (CDH23)	ENSP00000483211.1:p.Ile1101Val
NM_001164375.2:c.*3191T>C (C10orf105)	NP_001157847.1:n.*3191T>C
NM_001168390.1:c.*3191T>C (C10orf105)	NP_001161862.1:n.*3191T>C
NM_001171930.1:c.3301A>G (CDH23)	NP_001165401.1:p.Ile1101Val
NM_022124.5:c.3301A>G (CDH23)	NP_071407.4:p.Ile1101Val
XM_006717940.2:c.3496A>G (CDH23)	XP_006718003.1:p.Ile1166Val
XM_006717942.2:c.3430A>G (CDH23)	XP_006718005.1:p.Ile1144Val
XM_011540039.1:c.3496A>G (CDH23)	XP_011538341.1:p.Ile1166Val
XM_011540040.1:c.3490A>G (CDH23)	XP_011538342.1:p.Ile1164Val
XM_011540041.1:c.3436A>G (CDH23)	XP_011538343.1:p.Ile1146Val
XM_011540042.1:c.3496A>G (CDH23)	XP_011538344.1:p.Ile1166Val
XM_011540043.1:c.3496A>G (CDH23)	XP_011538345.1:p.Ile1166Val
XM_011540044.1:c.3361A>G (CDH23)	XP_011538346.1:p.Ile1121Val
XM_011540045.1:c.3496A>G (CDH23)	XP_011538347.1:p.Ile1166Val
XM_011540046.1:c.2956A>G (CDH23)	XP_011538348.1:p.Ile986Val
XM_011540047.1:c.2314A>G (CDH23)	XP_011538349.1:p.Ile772Val
XM_011540048.1:c.3496A>G (CDH23)	XP_011538350.1:p.Ile1166Val
XM_011540049.1:c.3496A>G (CDH23)	XP_011538351.1:p.Ile1166Val
XM_011540050.1:c.3496A>G (CDH23)	XP_011538352.1:p.Ile1166Val
XM_011540051.1:c.3496A>G (CDH23)	XP_011538353.1:p.Ile1166Val
XM_011540053.1:c.3496A>G (CDH23)	XP_011538355.1:p.Ile1166Val
XR_945796.1:n.3739A>G (CDH23)
XM_011539808.2:c.*3191T>C (C10orf105)	XP_011538110.1:n.*3191T>C
XM_011539809.2:c.*3191T>C (C10orf105)	XP_011538111.1:n.*3191T>C
NM_001164375.3:c.*3191T>C (C10orf105) MANE Select	NP_001157847.1:n.*3191T>C
NM_001168390.2:c.*3191T>C (C10orf105)	NP_001161862.1:n.*3191T>C
NM_001171930.2:c.3301A>G (CDH23)	NP_001165401.1:p.Ile1101Val
NM_022124.6:c.3301A>G (CDH23) MANE Select	NP_071407.4:p.Ile1101Val