Canonical Allele Identifier: CA1918870268
Community Standard Title: NM_022124.6(CDH23):c.5996C= (p.Thr1999=)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71790360C= , CM000672.2:g.71790360C= GRCh38
NC_000010.10:g.73550117C= , CM000672.1:g.73550117C= GRCh37
NC_000010.9:g.73220123C= NCBI36
NG_008835.1:g.398414C=

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.5996C= MANE Select NP_071407.4:p.Thr1999=
ENST00000224721.12:c.5996C= MANE Select ENSP00000224721.9:p.Thr1999=
NM_022124.5:c.5996C= NP_071407.4:p.Thr1999=
ENST00000224721.10:c.6011C= ENSP00000224721.8:p.Thr2004=
ENST00000622827.4:c.5996C= ENSP00000483211.1:p.Thr1999=
XM_006717940.2:c.6191C= XP_006718003.1:p.Thr2064=
XM_006717942.2:c.6125C= XP_006718005.1:p.Thr2042=
XM_011540039.1:c.6188C= XP_011538341.1:p.Thr2063=
XM_011540040.1:c.6185C= XP_011538342.1:p.Thr2062=
XM_011540041.1:c.6131C= XP_011538343.1:p.Thr2044=
XM_011540042.1:c.6191C= XP_011538344.1:p.Thr2064=
XM_011540043.1:c.6191C= XP_011538345.1:p.Thr2064=
XM_011540044.1:c.6056C= XP_011538346.1:p.Thr2019=
XM_011540045.1:c.6191C= XP_011538347.1:p.Thr2064=
XM_011540046.1:c.5651C= XP_011538348.1:p.Thr1884=
XM_011540047.1:c.5009C= XP_011538349.1:p.Thr1670=
XM_011540048.1:c.6191C= XP_011538350.1:p.Thr2064=
XM_011540049.1:c.6191C= XP_011538351.1:p.Thr2064=
XM_011540050.1:c.6191C= XP_011538352.1:p.Thr2064=
XM_011540051.1:c.6191C= XP_011538353.1:p.Thr2064=
XM_011540052.1:c.2519C= XP_011538354.1:p.Thr840=
XR_945796.1:n.6434C=