Canonical Allele Identifier: CA377154715
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 1444877
ClinVar RCV Id: RCV001956020
dbSNP Id: rs2132953541
MyVariant Identifiers: chr10:g.73553074C>T (hg19) chr10:g.71793317C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71793317C>T , CM000672.2:g.71793317C>T GRCh38
NC_000010.10:g.73553074C>T , CM000672.1:g.73553074C>T GRCh37
NC_000010.9:g.73223080C>T NCBI36
NG_008835.1:g.401371C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.6389C>T MANE Select ENSP00000224721.9:p.Ala2130Val
ENST00000224721.10:c.6404C>T ENSP00000224721.8:p.Ala2135Val
ENST00000622827.4:c.6389C>T ENSP00000483211.1:p.Ala2130Val
NM_022124.5:c.6389C>T NP_071407.4:p.Ala2130Val
XM_006717940.2:c.6584C>T XP_006718003.1:p.Ala2195Val
XM_006717942.2:c.6518C>T XP_006718005.1:p.Ala2173Val
XM_011540039.1:c.6581C>T XP_011538341.1:p.Ala2194Val
XM_011540040.1:c.6578C>T XP_011538342.1:p.Ala2193Val
XM_011540041.1:c.6524C>T XP_011538343.1:p.Ala2175Val
XM_011540042.1:c.6577+7C>T XP_011538344.1:n.6577+7C>T
XM_011540043.1:c.6584C>T XP_011538345.1:p.Ala2195Val
XM_011540044.1:c.6449C>T XP_011538346.1:p.Ala2150Val
XM_011540045.1:c.6584C>T XP_011538347.1:p.Ala2195Val
XM_011540046.1:c.6044C>T XP_011538348.1:p.Ala2015Val
XM_011540047.1:c.5402C>T XP_011538349.1:p.Ala1801Val
XM_011540048.1:c.6584C>T XP_011538350.1:p.Ala2195Val
XM_011540049.1:c.6584C>T XP_011538351.1:p.Ala2195Val
XM_011540050.1:c.6584C>T XP_011538352.1:p.Ala2195Val
XM_011540051.1:c.6584C>T XP_011538353.1:p.Ala2195Val
XM_011540052.1:c.2912C>T XP_011538354.1:p.Ala971Val
XR_945796.1:n.6827C>T
NM_022124.6:c.6389C>T MANE Select NP_071407.4:p.Ala2130Val
Search 100 bp 5'
Search 100 bp 3'