Canonical Allele Identifier: CA377154736

Gene: CDH23

Linked Data

• gnomAD v4: 10-71793322-A-T
• MyVariant Identifiers: chr10:g.73553079A>T (hg19) ; chr10:g.71793322A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793322A>T , CM000672.2:g.71793322A>T	GRCh38
NC_000010.10:g.73553079A>T , CM000672.1:g.73553079A>T	GRCh37
NC_000010.9:g.73223085A>T	NCBI36
NG_008835.1:g.401376A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6394A>T MANE Select	ENSP00000224721.9:p.Ile2132Phe
ENST00000224721.10:c.6409A>T	ENSP00000224721.8:p.Ile2137Phe
ENST00000622827.4:c.6394A>T	ENSP00000483211.1:p.Ile2132Phe
NM_022124.5:c.6394A>T	NP_071407.4:p.Ile2132Phe
XM_006717940.2:c.6589A>T	XP_006718003.1:p.Ile2197Phe
XM_006717942.2:c.6523A>T	XP_006718005.1:p.Ile2175Phe
XM_011540039.1:c.6586A>T	XP_011538341.1:p.Ile2196Phe
XM_011540040.1:c.6583A>T	XP_011538342.1:p.Ile2195Phe
XM_011540041.1:c.6529A>T	XP_011538343.1:p.Ile2177Phe
XM_011540042.1:c.6577+12A>T	XP_011538344.1:n.6577+12A>T
XM_011540043.1:c.6589A>T	XP_011538345.1:p.Ile2197Phe
XM_011540044.1:c.6454A>T	XP_011538346.1:p.Ile2152Phe
XM_011540045.1:c.6589A>T	XP_011538347.1:p.Ile2197Phe
XM_011540046.1:c.6049A>T	XP_011538348.1:p.Ile2017Phe
XM_011540047.1:c.5407A>T	XP_011538349.1:p.Ile1803Phe
XM_011540048.1:c.6589A>T	XP_011538350.1:p.Ile2197Phe
XM_011540049.1:c.6589A>T	XP_011538351.1:p.Ile2197Phe
XM_011540050.1:c.6589A>T	XP_011538352.1:p.Ile2197Phe
XM_011540051.1:c.6589A>T	XP_011538353.1:p.Ile2197Phe
XM_011540052.1:c.2917A>T	XP_011538354.1:p.Ile973Phe
XR_945796.1:n.6832A>T
NM_022124.6:c.6394A>T MANE Select	NP_071407.4:p.Ile2132Phe