Canonical Allele Identifier: CA377154525

Gene: CDH23 C10orf105

Linked Data

• ClinVar Variation Id: 2170575
• ClinVar RCV Id: RCV003080605
• MyVariant Identifiers: chr10:g.73490289C>A (hg19) ; chr10:g.71730532C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71730532C>A , CM000672.2:g.71730532C>A	GRCh38
NC_000010.10:g.73490289C>A , CM000672.1:g.73490289C>A	GRCh37
NC_000010.9:g.73160295C>A	NCBI36
NG_008835.1:g.338586C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.3643C>A (CDH23) MANE Select	ENSP00000224721.9:p.Arg1215Ser
ENST00000398809.9:c.3640C>A (CDH23)	ENSP00000381789.5:p.Arg1214Ser
ENST00000224721.10:c.3658C>A (CDH23)	ENSP00000224721.8:p.Arg1220Ser
ENST00000398786.2:c.-6+7196G>T (C10orf105)	ENSP00000381766.3:n.-6+7196G>T
ENST00000398792.3:n.335C>A (CDH23)
ENST00000398809.8:c.3640C>A (CDH23)	ENSP00000381789.5:p.Arg1214Ser
ENST00000616684.4:c.3643C>A (CDH23)	ENSP00000482036.2:p.Arg1215Ser
ENST00000622827.4:c.3643C>A (CDH23)	ENSP00000483211.1:p.Arg1215Ser
NM_001168390.1:c.-6+7196G>T (C10orf105)	NP_001161862.1:n.-6+7196G>T
NM_001171930.1:c.3643C>A (CDH23)	NP_001165401.1:p.Arg1215Ser
NM_022124.5:c.3643C>A (CDH23)	NP_071407.4:p.Arg1215Ser
XM_006717940.2:c.3838C>A (CDH23)	XP_006718003.1:p.Arg1280Ser
XM_006717942.2:c.3772C>A (CDH23)	XP_006718005.1:p.Arg1258Ser
XM_011540039.1:c.3838C>A (CDH23)	XP_011538341.1:p.Arg1280Ser
XM_011540040.1:c.3832C>A (CDH23)	XP_011538342.1:p.Arg1278Ser
XM_011540041.1:c.3778C>A (CDH23)	XP_011538343.1:p.Arg1260Ser
XM_011540042.1:c.3838C>A (CDH23)	XP_011538344.1:p.Arg1280Ser
XM_011540043.1:c.3838C>A (CDH23)	XP_011538345.1:p.Arg1280Ser
XM_011540044.1:c.3703C>A (CDH23)	XP_011538346.1:p.Arg1235Ser
XM_011540045.1:c.3838C>A (CDH23)	XP_011538347.1:p.Arg1280Ser
XM_011540046.1:c.3298C>A (CDH23)	XP_011538348.1:p.Arg1100Ser
XM_011540047.1:c.2656C>A (CDH23)	XP_011538349.1:p.Arg886Ser
XM_011540048.1:c.3838C>A (CDH23)	XP_011538350.1:p.Arg1280Ser
XM_011540049.1:c.3838C>A (CDH23)	XP_011538351.1:p.Arg1280Ser
XM_011540050.1:c.3838C>A (CDH23)	XP_011538352.1:p.Arg1280Ser
XM_011540051.1:c.3838C>A (CDH23)	XP_011538353.1:p.Arg1280Ser
XM_011540052.1:c.166C>A (CDH23)	XP_011538354.1:p.Arg56Ser
XM_011540053.1:c.3838C>A (CDH23)	XP_011538355.1:p.Arg1280Ser
XR_945796.1:n.4081C>A (CDH23)
NM_001168390.2:c.-6+7196G>T (C10orf105)	NP_001161862.1:n.-6+7196G>T
NM_001171930.2:c.3643C>A (CDH23)	NP_001165401.1:p.Arg1215Ser
NM_022124.6:c.3643C>A (CDH23) MANE Select	NP_071407.4:p.Arg1215Ser