Canonical Allele Identifier: CA377160379

Gene: CDH23

Linked Data

• gnomAD v4: 10-71740844-C-T
• MyVariant Identifiers: chr10:g.73500601C>T (hg19) ; chr10:g.71740844C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740844C>T , CM000672.2:g.71740844C>T	GRCh38
NC_000010.10:g.73500601C>T , CM000672.1:g.73500601C>T	GRCh37
NC_000010.9:g.73170607C>T	NCBI36
NG_008835.1:g.348898C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.4511C>T MANE Select	ENSP00000224721.9:p.Thr1504Ile
ENST00000224721.10:c.4526C>T	ENSP00000224721.8:p.Thr1509Ile
ENST00000398792.3:n.1200C>T
ENST00000622827.4:c.4511C>T	ENSP00000483211.1:p.Thr1504Ile
NM_022124.5:c.4511C>T	NP_071407.4:p.Thr1504Ile
XM_006717940.2:c.4706C>T	XP_006718003.1:p.Thr1569Ile
XM_006717942.2:c.4640C>T	XP_006718005.1:p.Thr1547Ile
XM_011540039.1:c.4703C>T	XP_011538341.1:p.Thr1568Ile
XM_011540040.1:c.4700C>T	XP_011538342.1:p.Thr1567Ile
XM_011540041.1:c.4646C>T	XP_011538343.1:p.Thr1549Ile
XM_011540042.1:c.4706C>T	XP_011538344.1:p.Thr1569Ile
XM_011540043.1:c.4706C>T	XP_011538345.1:p.Thr1569Ile
XM_011540044.1:c.4571C>T	XP_011538346.1:p.Thr1524Ile
XM_011540045.1:c.4706C>T	XP_011538347.1:p.Thr1569Ile
XM_011540046.1:c.4166C>T	XP_011538348.1:p.Thr1389Ile
XM_011540047.1:c.3524C>T	XP_011538349.1:p.Thr1175Ile
XM_011540048.1:c.4706C>T	XP_011538350.1:p.Thr1569Ile
XM_011540049.1:c.4706C>T	XP_011538351.1:p.Thr1569Ile
XM_011540050.1:c.4706C>T	XP_011538352.1:p.Thr1569Ile
XM_011540051.1:c.4706C>T	XP_011538353.1:p.Thr1569Ile
XM_011540052.1:c.1034C>T	XP_011538354.1:p.Thr345Ile
XM_011540053.1:c.4706C>T	XP_011538355.1:p.Thr1569Ile
XR_945796.1:n.4949C>T
NM_022124.6:c.4511C>T MANE Select	NP_071407.4:p.Thr1504Ile