Canonical Allele Identifier: CA1918874546
Community Standard Title: NM_022124.6(CDH23):c.5131G= (p.Val1711=)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71778252G= , CM000672.2:g.71778252G= GRCh38
NC_000010.10:g.73538009G= , CM000672.1:g.73538009G= GRCh37
NC_000010.9:g.73208015G= NCBI36
NG_008835.1:g.386306G=

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.5131G= MANE Select NP_071407.4:p.Val1711=
ENST00000224721.12:c.5131G= MANE Select ENSP00000224721.9:p.Val1711=
NM_022124.5:c.5131G= NP_071407.4:p.Val1711=
ENST00000224721.10:c.5146G= ENSP00000224721.8:p.Val1716=
ENST00000622827.4:c.5131G= ENSP00000483211.1:p.Val1711=
XM_006717940.2:c.5326G= XP_006718003.1:p.Val1776=
XM_006717942.2:c.5260G= XP_006718005.1:p.Val1754=
XM_011540039.1:c.5323G= XP_011538341.1:p.Val1775=
XM_011540040.1:c.5320G= XP_011538342.1:p.Val1774=
XM_011540041.1:c.5266G= XP_011538343.1:p.Val1756=
XM_011540042.1:c.5326G= XP_011538344.1:p.Val1776=
XM_011540043.1:c.5326G= XP_011538345.1:p.Val1776=
XM_011540044.1:c.5191G= XP_011538346.1:p.Val1731=
XM_011540045.1:c.5326G= XP_011538347.1:p.Val1776=
XM_011540046.1:c.4786G= XP_011538348.1:p.Val1596=
XM_011540047.1:c.4144G= XP_011538349.1:p.Val1382=
XM_011540048.1:c.5326G= XP_011538350.1:p.Val1776=
XM_011540049.1:c.5326G= XP_011538351.1:p.Val1776=
XM_011540050.1:c.5326G= XP_011538352.1:p.Val1776=
XM_011540051.1:c.5326G= XP_011538353.1:p.Val1776=
XM_011540052.1:c.1654G= XP_011538354.1:p.Val552=
XM_011540053.1:c.5326G= XP_011538355.1:p.Val1776=
XR_945796.1:n.5569G=