Canonical Allele Identifier: CA137531

Gene: CDH23

Linked Data

• ClinVar Variation Id: 46008
• ClinVar RCV Id: RCV000039243 ; RCV000839250 ; RCV001275571
• dbSNP Id: rs111033492
• ExAC: 10:73553014 C / T
• gnomAD v2: 10-73553014-C-T
• gnomAD v3: 10-71793257-C-T
• gnomAD v4: 10-71793257-C-T
• MyVariant Identifiers: chr10:g.73553014C>T (hg19) ; chr10:g.71793257C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793257C>T , CM000672.2:g.71793257C>T	GRCh38
NC_000010.10:g.73553014C>T , CM000672.1:g.73553014C>T	GRCh37
NC_000010.9:g.73223020C>T	NCBI36
NG_008835.1:g.401311C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6329C>T MANE Select	ENSP00000224721.9:p.Ala2110Val
ENST00000224721.10:c.6344C>T	ENSP00000224721.8:p.Ala2115Val
ENST00000622827.4:c.6329C>T	ENSP00000483211.1:p.Ala2110Val
NM_022124.5:c.6329C>T	NP_071407.4:p.Ala2110Val
XM_006717940.2:c.6524C>T	XP_006718003.1:p.Ala2175Val
XM_006717942.2:c.6458C>T	XP_006718005.1:p.Ala2153Val
XM_011540039.1:c.6521C>T	XP_011538341.1:p.Ala2174Val
XM_011540040.1:c.6518C>T	XP_011538342.1:p.Ala2173Val
XM_011540041.1:c.6464C>T	XP_011538343.1:p.Ala2155Val
XM_011540042.1:c.6524C>T	XP_011538344.1:p.Ala2175Val
XM_011540043.1:c.6524C>T	XP_011538345.1:p.Ala2175Val
XM_011540044.1:c.6389C>T	XP_011538346.1:p.Ala2130Val
XM_011540045.1:c.6524C>T	XP_011538347.1:p.Ala2175Val
XM_011540046.1:c.5984C>T	XP_011538348.1:p.Ala1995Val
XM_011540047.1:c.5342C>T	XP_011538349.1:p.Ala1781Val
XM_011540048.1:c.6524C>T	XP_011538350.1:p.Ala2175Val
XM_011540049.1:c.6524C>T	XP_011538351.1:p.Ala2175Val
XM_011540050.1:c.6524C>T	XP_011538352.1:p.Ala2175Val
XM_011540051.1:c.6524C>T	XP_011538353.1:p.Ala2175Val
XM_011540052.1:c.2852C>T	XP_011538354.1:p.Ala951Val
XR_945796.1:n.6767C>T
NM_022124.6:c.6329C>T MANE Select	NP_071407.4:p.Ala2110Val