Canonical Allele Identifier: CA377141017
Community Standard Title: NM_022124.6(CDH23):c.5131G>T (p.Val1711Phe)
Gene: CDH23 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.5131G>T MANE Select NP_071407.4:p.Val1711Phe
ENST00000224721.12:c.5131G>T MANE Select ENSP00000224721.9:p.Val1711Phe
NM_022124.5:c.5131G>T NP_071407.4:p.Val1711Phe
ENST00000224721.10:c.5146G>T ENSP00000224721.8:p.Val1716Phe
ENST00000622827.4:c.5131G>T ENSP00000483211.1:p.Val1711Phe
XM_006717940.2:c.5326G>T XP_006718003.1:p.Val1776Phe
XM_006717942.2:c.5260G>T XP_006718005.1:p.Val1754Phe
XM_011540039.1:c.5323G>T XP_011538341.1:p.Val1775Phe
XM_011540040.1:c.5320G>T XP_011538342.1:p.Val1774Phe
XM_011540041.1:c.5266G>T XP_011538343.1:p.Val1756Phe
XM_011540042.1:c.5326G>T XP_011538344.1:p.Val1776Phe
XM_011540043.1:c.5326G>T XP_011538345.1:p.Val1776Phe
XM_011540044.1:c.5191G>T XP_011538346.1:p.Val1731Phe
XM_011540045.1:c.5326G>T XP_011538347.1:p.Val1776Phe
XM_011540046.1:c.4786G>T XP_011538348.1:p.Val1596Phe
XM_011540047.1:c.4144G>T XP_011538349.1:p.Val1382Phe
XM_011540048.1:c.5326G>T XP_011538350.1:p.Val1776Phe
XM_011540049.1:c.5326G>T XP_011538351.1:p.Val1776Phe
XM_011540050.1:c.5326G>T XP_011538352.1:p.Val1776Phe
XM_011540051.1:c.5326G>T XP_011538353.1:p.Val1776Phe
XM_011540052.1:c.1654G>T XP_011538354.1:p.Val552Phe
XM_011540053.1:c.5326G>T XP_011538355.1:p.Val1776Phe
XR_945796.1:n.5569G>T