Canonical Allele Identifier: CA209466001

Gene: CDH23

Linked Data

• dbSNP Id: rs182041993
• MyVariant Identifiers: chr10:g.73553023A>T (hg19) ; chr10:g.71793266A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793266A>T , CM000672.2:g.71793266A>T	GRCh38
NC_000010.10:g.73553023A>T , CM000672.1:g.73553023A>T	GRCh37
NC_000010.9:g.73223029A>T	NCBI36
NG_008835.1:g.401320A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6338A>T MANE Select	ENSP00000224721.9:p.Gln2113Leu
ENST00000224721.10:c.6353A>T	ENSP00000224721.8:p.Gln2118Leu
ENST00000622827.4:c.6338A>T	ENSP00000483211.1:p.Gln2113Leu
NM_022124.5:c.6338A>T	NP_071407.4:p.Gln2113Leu
XM_006717940.2:c.6533A>T	XP_006718003.1:p.Gln2178Leu
XM_006717942.2:c.6467A>T	XP_006718005.1:p.Gln2156Leu
XM_011540039.1:c.6530A>T	XP_011538341.1:p.Gln2177Leu
XM_011540040.1:c.6527A>T	XP_011538342.1:p.Gln2176Leu
XM_011540041.1:c.6473A>T	XP_011538343.1:p.Gln2158Leu
XM_011540042.1:c.6533A>T	XP_011538344.1:p.Gln2178Leu
XM_011540043.1:c.6533A>T	XP_011538345.1:p.Gln2178Leu
XM_011540044.1:c.6398A>T	XP_011538346.1:p.Gln2133Leu
XM_011540045.1:c.6533A>T	XP_011538347.1:p.Gln2178Leu
XM_011540046.1:c.5993A>T	XP_011538348.1:p.Gln1998Leu
XM_011540047.1:c.5351A>T	XP_011538349.1:p.Gln1784Leu
XM_011540048.1:c.6533A>T	XP_011538350.1:p.Gln2178Leu
XM_011540049.1:c.6533A>T	XP_011538351.1:p.Gln2178Leu
XM_011540050.1:c.6533A>T	XP_011538352.1:p.Gln2178Leu
XM_011540051.1:c.6533A>T	XP_011538353.1:p.Gln2178Leu
XM_011540052.1:c.2861A>T	XP_011538354.1:p.Gln954Leu
XR_945796.1:n.6776A>T
NM_022124.6:c.6338A>T MANE Select	NP_071407.4:p.Gln2113Leu