Canonical Allele Identifier: CA377154805
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71793329G>T , CM000672.2:g.71793329G>T GRCh38
NC_000010.10:g.73553086G>T , CM000672.1:g.73553086G>T GRCh37
NC_000010.9:g.73223092G>T NCBI36
NG_008835.1:g.401383G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6401G>T MANE Select ENSP00000224721.9:p.Arg2134Ile
ENST00000224721.10:c.6416G>T ENSP00000224721.8:p.Arg2139Ile
ENST00000622827.4:c.6401G>T ENSP00000483211.1:p.Arg2134Ile
NM_022124.5:c.6401G>T NP_071407.4:p.Arg2134Ile
XM_006717940.2:c.6596G>T XP_006718003.1:p.Arg2199Ile
XM_006717942.2:c.6530G>T XP_006718005.1:p.Arg2177Ile
XM_011540039.1:c.6593G>T XP_011538341.1:p.Arg2198Ile
XM_011540040.1:c.6590G>T XP_011538342.1:p.Arg2197Ile
XM_011540041.1:c.6536G>T XP_011538343.1:p.Arg2179Ile
XM_011540042.1:c.6577+19G>T XP_011538344.1:n.6577+19G>T
XM_011540043.1:c.6596G>T XP_011538345.1:p.Arg2199Ile
XM_011540044.1:c.6461G>T XP_011538346.1:p.Arg2154Ile
XM_011540045.1:c.6596G>T XP_011538347.1:p.Arg2199Ile
XM_011540046.1:c.6056G>T XP_011538348.1:p.Arg2019Ile
XM_011540047.1:c.5414G>T XP_011538349.1:p.Arg1805Ile
XM_011540048.1:c.6596G>T XP_011538350.1:p.Arg2199Ile
XM_011540049.1:c.6596G>T XP_011538351.1:p.Arg2199Ile
XM_011540050.1:c.6596G>T XP_011538352.1:p.Arg2199Ile
XM_011540051.1:c.6596G>T XP_011538353.1:p.Arg2199Ile
XM_011540052.1:c.2924G>T XP_011538354.1:p.Arg975Ile
XR_945796.1:n.6839G>T
NM_022124.6:c.6401G>T MANE Select NP_071407.4:p.Arg2134Ile