Canonical Allele Identifier: CA137539

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793524T>A , CM000672.2:g.71793524T>A	GRCh38
NC_000010.10:g.73553281T>A , CM000672.1:g.73553281T>A	GRCh37
NC_000010.9:g.73223287T>A	NCBI36
NG_008835.1:g.401578T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6596T>A MANE Select	ENSP00000224721.9:p.Ile2199Asn
ENST00000224721.10:c.6611T>A	ENSP00000224721.8:p.Ile2204Asn
ENST00000622827.4:c.6596T>A	ENSP00000483211.1:p.Ile2199Asn
NM_022124.5:c.6596T>A	NP_071407.4:p.Ile2199Asn
XM_006717940.2:c.6791T>A	XP_006718003.1:p.Ile2264Asn
XM_006717942.2:c.6725T>A	XP_006718005.1:p.Ile2242Asn
XM_011540039.1:c.6788T>A	XP_011538341.1:p.Ile2263Asn
XM_011540040.1:c.6785T>A	XP_011538342.1:p.Ile2262Asn
XM_011540041.1:c.6731T>A	XP_011538343.1:p.Ile2244Asn
XM_011540042.1:c.6701T>A	XP_011538344.1:p.Ile2234Asn
XM_011540043.1:c.6791T>A	XP_011538345.1:p.Ile2264Asn
XM_011540044.1:c.6656T>A	XP_011538346.1:p.Ile2219Asn
XM_011540045.1:c.6791T>A	XP_011538347.1:p.Ile2264Asn
XM_011540046.1:c.6251T>A	XP_011538348.1:p.Ile2084Asn
XM_011540047.1:c.5609T>A	XP_011538349.1:p.Ile1870Asn
XM_011540048.1:c.6791T>A	XP_011538350.1:p.Ile2264Asn
XM_011540049.1:c.6791T>A	XP_011538351.1:p.Ile2264Asn
XM_011540050.1:c.6791T>A	XP_011538352.1:p.Ile2264Asn
XM_011540051.1:c.6791T>A	XP_011538353.1:p.Ile2264Asn
XM_011540052.1:c.3119T>A	XP_011538354.1:p.Ile1040Asn
XR_945796.1:n.7034T>A
NM_022124.6:c.6596T>A MANE Select	NP_071407.4:p.Ile2199Asn