Canonical Allele Identifier: CA377160521

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2159979
• ClinVar RCV Id: RCV003073105
• gnomAD v4: 10-71740880-C-T
• MyVariant Identifiers: chr10:g.73500637C>T (hg19) ; chr10:g.71740880C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740880C>T , CM000672.2:g.71740880C>T	GRCh38
NC_000010.10:g.73500637C>T , CM000672.1:g.73500637C>T	GRCh37
NC_000010.9:g.73170643C>T	NCBI36
NG_008835.1:g.348934C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.4547C>T MANE Select	ENSP00000224721.9:p.Thr1516Ile
ENST00000224721.10:c.4562C>T	ENSP00000224721.8:p.Thr1521Ile
ENST00000398792.3:n.1236C>T
ENST00000622827.4:c.4547C>T	ENSP00000483211.1:p.Thr1516Ile
NM_022124.5:c.4547C>T	NP_071407.4:p.Thr1516Ile
XM_006717940.2:c.4742C>T	XP_006718003.1:p.Thr1581Ile
XM_006717942.2:c.4676C>T	XP_006718005.1:p.Thr1559Ile
XM_011540039.1:c.4739C>T	XP_011538341.1:p.Thr1580Ile
XM_011540040.1:c.4736C>T	XP_011538342.1:p.Thr1579Ile
XM_011540041.1:c.4682C>T	XP_011538343.1:p.Thr1561Ile
XM_011540042.1:c.4742C>T	XP_011538344.1:p.Thr1581Ile
XM_011540043.1:c.4742C>T	XP_011538345.1:p.Thr1581Ile
XM_011540044.1:c.4607C>T	XP_011538346.1:p.Thr1536Ile
XM_011540045.1:c.4742C>T	XP_011538347.1:p.Thr1581Ile
XM_011540046.1:c.4202C>T	XP_011538348.1:p.Thr1401Ile
XM_011540047.1:c.3560C>T	XP_011538349.1:p.Thr1187Ile
XM_011540048.1:c.4742C>T	XP_011538350.1:p.Thr1581Ile
XM_011540049.1:c.4742C>T	XP_011538351.1:p.Thr1581Ile
XM_011540050.1:c.4742C>T	XP_011538352.1:p.Thr1581Ile
XM_011540051.1:c.4742C>T	XP_011538353.1:p.Thr1581Ile
XM_011540052.1:c.1070C>T	XP_011538354.1:p.Thr357Ile
XM_011540053.1:c.4742C>T	XP_011538355.1:p.Thr1581Ile
XR_945796.1:n.4985C>T
NM_022124.6:c.4547C>T MANE Select	NP_071407.4:p.Thr1516Ile