Canonical Allele Identifier: CA377154961
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71793352C>A , CM000672.2:g.71793352C>A GRCh38
NC_000010.10:g.73553109C>A , CM000672.1:g.73553109C>A GRCh37
NC_000010.9:g.73223115C>A NCBI36
NG_008835.1:g.401406C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6424C>A MANE Select ENSP00000224721.9:p.Leu2142Ile
ENST00000224721.10:c.6439C>A ENSP00000224721.8:p.Leu2147Ile
ENST00000622827.4:c.6424C>A ENSP00000483211.1:p.Leu2142Ile
NM_022124.5:c.6424C>A NP_071407.4:p.Leu2142Ile
XM_006717940.2:c.6619C>A XP_006718003.1:p.Leu2207Ile
XM_006717942.2:c.6553C>A XP_006718005.1:p.Leu2185Ile
XM_011540039.1:c.6616C>A XP_011538341.1:p.Leu2206Ile
XM_011540040.1:c.6613C>A XP_011538342.1:p.Leu2205Ile
XM_011540041.1:c.6559C>A XP_011538343.1:p.Leu2187Ile
XM_011540042.1:c.6577+42C>A XP_011538344.1:n.6577+42C>A
XM_011540043.1:c.6619C>A XP_011538345.1:p.Leu2207Ile
XM_011540044.1:c.6484C>A XP_011538346.1:p.Leu2162Ile
XM_011540045.1:c.6619C>A XP_011538347.1:p.Leu2207Ile
XM_011540046.1:c.6079C>A XP_011538348.1:p.Leu2027Ile
XM_011540047.1:c.5437C>A XP_011538349.1:p.Leu1813Ile
XM_011540048.1:c.6619C>A XP_011538350.1:p.Leu2207Ile
XM_011540049.1:c.6619C>A XP_011538351.1:p.Leu2207Ile
XM_011540050.1:c.6619C>A XP_011538352.1:p.Leu2207Ile
XM_011540051.1:c.6619C>A XP_011538353.1:p.Leu2207Ile
XM_011540052.1:c.2947C>A XP_011538354.1:p.Leu983Ile
XR_945796.1:n.6862C>A
NM_022124.6:c.6424C>A MANE Select NP_071407.4:p.Leu2142Ile