Canonical Allele Identifier: CA377154728

Gene: CDH23

Linked Data

• gnomAD v4: 10-71793320-C-T
• MyVariant Identifiers: chr10:g.73553077C>T (hg19) ; chr10:g.71793320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793320C>T , CM000672.2:g.71793320C>T	GRCh38
NC_000010.10:g.73553077C>T , CM000672.1:g.73553077C>T	GRCh37
NC_000010.9:g.73223083C>T	NCBI36
NG_008835.1:g.401374C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6392C>T MANE Select	ENSP00000224721.9:p.Thr2131Ile
ENST00000224721.10:c.6407C>T	ENSP00000224721.8:p.Thr2136Ile
ENST00000622827.4:c.6392C>T	ENSP00000483211.1:p.Thr2131Ile
NM_022124.5:c.6392C>T	NP_071407.4:p.Thr2131Ile
XM_006717940.2:c.6587C>T	XP_006718003.1:p.Thr2196Ile
XM_006717942.2:c.6521C>T	XP_006718005.1:p.Thr2174Ile
XM_011540039.1:c.6584C>T	XP_011538341.1:p.Thr2195Ile
XM_011540040.1:c.6581C>T	XP_011538342.1:p.Thr2194Ile
XM_011540041.1:c.6527C>T	XP_011538343.1:p.Thr2176Ile
XM_011540042.1:c.6577+10C>T	XP_011538344.1:n.6577+10C>T
XM_011540043.1:c.6587C>T	XP_011538345.1:p.Thr2196Ile
XM_011540044.1:c.6452C>T	XP_011538346.1:p.Thr2151Ile
XM_011540045.1:c.6587C>T	XP_011538347.1:p.Thr2196Ile
XM_011540046.1:c.6047C>T	XP_011538348.1:p.Thr2016Ile
XM_011540047.1:c.5405C>T	XP_011538349.1:p.Thr1802Ile
XM_011540048.1:c.6587C>T	XP_011538350.1:p.Thr2196Ile
XM_011540049.1:c.6587C>T	XP_011538351.1:p.Thr2196Ile
XM_011540050.1:c.6587C>T	XP_011538352.1:p.Thr2196Ile
XM_011540051.1:c.6587C>T	XP_011538353.1:p.Thr2196Ile
XM_011540052.1:c.2915C>T	XP_011538354.1:p.Thr972Ile
XR_945796.1:n.6830C>T
NM_022124.6:c.6392C>T MANE Select	NP_071407.4:p.Thr2131Ile