Canonical Allele Identifier: CA5546058
Community Standard Title: NM_022124.6(CDH23):c.6337C>T (p.Gln2113Ter)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71793265C>T , CM000672.2:g.71793265C>T GRCh38
NC_000010.10:g.73553022C>T , CM000672.1:g.73553022C>T GRCh37
NC_000010.9:g.73223028C>T NCBI36
NG_008835.1:g.401319C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.6337C>T MANE Select NP_071407.4:p.Gln2113Ter
ENST00000224721.12:c.6337C>T MANE Select ENSP00000224721.9:p.Gln2113Ter
NM_022124.5:c.6337C>T NP_071407.4:p.Gln2113Ter
ENST00000224721.10:c.6352C>T ENSP00000224721.8:p.Gln2118Ter
ENST00000622827.4:c.6337C>T ENSP00000483211.1:p.Gln2113Ter
XM_006717940.2:c.6532C>T XP_006718003.1:p.Gln2178Ter
XM_006717942.2:c.6466C>T XP_006718005.1:p.Gln2156Ter
XM_011540039.1:c.6529C>T XP_011538341.1:p.Gln2177Ter
XM_011540040.1:c.6526C>T XP_011538342.1:p.Gln2176Ter
XM_011540041.1:c.6472C>T XP_011538343.1:p.Gln2158Ter
XM_011540042.1:c.6532C>T XP_011538344.1:p.Gln2178Ter
XM_011540043.1:c.6532C>T XP_011538345.1:p.Gln2178Ter
XM_011540044.1:c.6397C>T XP_011538346.1:p.Gln2133Ter
XM_011540045.1:c.6532C>T XP_011538347.1:p.Gln2178Ter
XM_011540046.1:c.5992C>T XP_011538348.1:p.Gln1998Ter
XM_011540047.1:c.5350C>T XP_011538349.1:p.Gln1784Ter
XM_011540048.1:c.6532C>T XP_011538350.1:p.Gln2178Ter
XM_011540049.1:c.6532C>T XP_011538351.1:p.Gln2178Ter
XM_011540050.1:c.6532C>T XP_011538352.1:p.Gln2178Ter
XM_011540051.1:c.6532C>T XP_011538353.1:p.Gln2178Ter
XM_011540052.1:c.2860C>T XP_011538354.1:p.Gln954Ter
XR_945796.1:n.6775C>T