Canonical Allele Identifier: CA5545144
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 877825
ClinVar RCV Id: RCV001103916 RCV001103917 RCV001241939 RCV003473716
dbSNP Id: rs137937502
ExAC: 10:73501595 C / T
gnomAD v2: 10-73501595-C-T
gnomAD v3: 10-71741838-C-T
gnomAD v4: 10-71741838-C-T
MyVariant Identifiers: chr10:g.73501595C>T (hg19) chr10:g.71741838C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71741838C>T , CM000672.2:g.71741838C>T GRCh38
NC_000010.10:g.73501595C>T , CM000672.1:g.73501595C>T GRCh37
NC_000010.9:g.73171601C>T NCBI36
NG_008835.1:g.349892C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.4762C>T MANE Select ENSP00000224721.9:p.Arg1588Trp
ENST00000224721.10:c.4777C>T ENSP00000224721.8:p.Arg1593Trp
ENST00000398792.3:n.1451C>T
ENST00000622827.4:c.4762C>T ENSP00000483211.1:p.Arg1588Trp
NM_022124.5:c.4762C>T NP_071407.4:p.Arg1588Trp
XM_006717940.2:c.4957C>T XP_006718003.1:p.Arg1653Trp
XM_006717942.2:c.4891C>T XP_006718005.1:p.Arg1631Trp
XM_011540039.1:c.4954C>T XP_011538341.1:p.Arg1652Trp
XM_011540040.1:c.4951C>T XP_011538342.1:p.Arg1651Trp
XM_011540041.1:c.4897C>T XP_011538343.1:p.Arg1633Trp
XM_011540042.1:c.4957C>T XP_011538344.1:p.Arg1653Trp
XM_011540043.1:c.4957C>T XP_011538345.1:p.Arg1653Trp
XM_011540044.1:c.4822C>T XP_011538346.1:p.Arg1608Trp
XM_011540045.1:c.4957C>T XP_011538347.1:p.Arg1653Trp
XM_011540046.1:c.4417C>T XP_011538348.1:p.Arg1473Trp
XM_011540047.1:c.3775C>T XP_011538349.1:p.Arg1259Trp
XM_011540048.1:c.4957C>T XP_011538350.1:p.Arg1653Trp
XM_011540049.1:c.4957C>T XP_011538351.1:p.Arg1653Trp
XM_011540050.1:c.4957C>T XP_011538352.1:p.Arg1653Trp
XM_011540051.1:c.4957C>T XP_011538353.1:p.Arg1653Trp
XM_011540052.1:c.1285C>T XP_011538354.1:p.Arg429Trp
XM_011540053.1:c.4957C>T XP_011538355.1:p.Arg1653Trp
XR_945796.1:n.5200C>T
NM_022124.6:c.4762C>T MANE Select NP_071407.4:p.Arg1588Trp
Search 100 bp 5'
Search 100 bp 3'