Canonical Allele Identifier: CA137500
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 45986
dbSNP Id: rs142131750

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71784932C>T , CM000672.2:g.71784932C>T GRCh38
NC_000010.10:g.73544689C>T , CM000672.1:g.73544689C>T GRCh37
NC_000010.9:g.73214695C>T NCBI36
NG_008835.1:g.392986C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.5544C>T MANE Select ENSP00000224721.9:p.Asp1848=
ENST00000224721.10:c.5559C>T ENSP00000224721.8:p.Asp1853=
ENST00000622827.4:c.5544C>T ENSP00000483211.1:p.Asp1848=
NM_022124.5:c.5544C>T NP_071407.4:p.Asp1848=
XM_006717940.2:c.5739C>T XP_006718003.1:p.Asp1913=
XM_006717942.2:c.5673C>T XP_006718005.1:p.Asp1891=
XM_011540039.1:c.5736C>T XP_011538341.1:p.Asp1912=
XM_011540040.1:c.5733C>T XP_011538342.1:p.Asp1911=
XM_011540041.1:c.5679C>T XP_011538343.1:p.Asp1893=
XM_011540042.1:c.5739C>T XP_011538344.1:p.Asp1913=
XM_011540043.1:c.5739C>T XP_011538345.1:p.Asp1913=
XM_011540044.1:c.5604C>T XP_011538346.1:p.Asp1868=
XM_011540045.1:c.5739C>T XP_011538347.1:p.Asp1913=
XM_011540046.1:c.5199C>T XP_011538348.1:p.Asp1733=
XM_011540047.1:c.4557C>T XP_011538349.1:p.Asp1519=
XM_011540048.1:c.5739C>T XP_011538350.1:p.Asp1913=
XM_011540049.1:c.5739C>T XP_011538351.1:p.Asp1913=
XM_011540050.1:c.5739C>T XP_011538352.1:p.Asp1913=
XM_011540051.1:c.5739C>T XP_011538353.1:p.Asp1913=
XM_011540052.1:c.2067C>T XP_011538354.1:p.Asp689=
XM_011540053.1:c.5739C>T XP_011538355.1:p.Asp1913=
XR_945796.1:n.5982C>T
NM_022124.6:c.5544C>T MANE Select NP_071407.4:p.Asp1848=