Canonical Allele Identifier: CA5545805

Gene: CDH23

Linked Data

• dbSNP Id: rs757656235
• ExAC: 10:73544674 C / T
• gnomAD v2: 10-73544674-C-T
• gnomAD v4: 10-71784917-C-T
• MyVariant Identifiers: chr10:g.73544674C>T (hg19) ; chr10:g.71784917C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71784917C>T , CM000672.2:g.71784917C>T	GRCh38
NC_000010.10:g.73544674C>T , CM000672.1:g.73544674C>T	GRCh37
NC_000010.9:g.73214680C>T	NCBI36
NG_008835.1:g.392971C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.5529C>T MANE Select	ENSP00000224721.9:p.Asp1843=
ENST00000224721.10:c.5544C>T	ENSP00000224721.8:p.Asp1848=
ENST00000622827.4:c.5529C>T	ENSP00000483211.1:p.Asp1843=
NM_022124.5:c.5529C>T	NP_071407.4:p.Asp1843=
XM_006717940.2:c.5724C>T	XP_006718003.1:p.Asp1908=
XM_006717942.2:c.5658C>T	XP_006718005.1:p.Asp1886=
XM_011540039.1:c.5721C>T	XP_011538341.1:p.Asp1907=
XM_011540040.1:c.5718C>T	XP_011538342.1:p.Asp1906=
XM_011540041.1:c.5664C>T	XP_011538343.1:p.Asp1888=
XM_011540042.1:c.5724C>T	XP_011538344.1:p.Asp1908=
XM_011540043.1:c.5724C>T	XP_011538345.1:p.Asp1908=
XM_011540044.1:c.5589C>T	XP_011538346.1:p.Asp1863=
XM_011540045.1:c.5724C>T	XP_011538347.1:p.Asp1908=
XM_011540046.1:c.5184C>T	XP_011538348.1:p.Asp1728=
XM_011540047.1:c.4542C>T	XP_011538349.1:p.Asp1514=
XM_011540048.1:c.5724C>T	XP_011538350.1:p.Asp1908=
XM_011540049.1:c.5724C>T	XP_011538351.1:p.Asp1908=
XM_011540050.1:c.5724C>T	XP_011538352.1:p.Asp1908=
XM_011540051.1:c.5724C>T	XP_011538353.1:p.Asp1908=
XM_011540052.1:c.2052C>T	XP_011538354.1:p.Asp684=
XM_011540053.1:c.5724C>T	XP_011538355.1:p.Asp1908=
XR_945796.1:n.5967C>T
NM_022124.6:c.5529C>T MANE Select	NP_071407.4:p.Asp1843=