Canonical Allele Identifier: CA470062087
Gene: CDH23 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.73558262T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798505T>C , CM000672.2:g.71798505T>C GRCh38
NC_000010.10:g.73558262T>C , CM000672.1:g.73558262T>C GRCh37
NC_000010.9:g.73228268T>C NCBI36
NG_008835.1:g.406559T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6981T>C MANE Select ENSP00000224721.9:p.Leu2327=
ENST00000642965.1:c.914T>C ENSP00000495222.1:n.914T>C
ENST00000647092.1:c.578T>C ENSP00000495176.1:n.578T>C
ENST00000224721.10:c.6996T>C ENSP00000224721.8:p.Leu2332=
ENST00000398788.4:c.261T>C ENSP00000381768.3:p.Leu87=
ENST00000475158.1:n.517T>C
ENST00000619887.4:c.261T>C ENSP00000478374.1:p.Leu87=
ENST00000622827.4:c.6981T>C ENSP00000483211.1:p.Leu2327=
NM_001171933.1:c.261T>C NP_001165404.1:p.Leu87=
NM_001171934.1:c.261T>C NP_001165405.1:p.Leu87=
NM_022124.5:c.6981T>C NP_071407.4:p.Leu2327=
XM_006717940.2:c.7176T>C XP_006718003.1:p.Leu2392=
XM_006717942.2:c.7110T>C XP_006718005.1:p.Leu2370=
XM_011540039.1:c.7173T>C XP_011538341.1:p.Leu2391=
XM_011540040.1:c.7170T>C XP_011538342.1:p.Leu2390=
XM_011540041.1:c.7116T>C XP_011538343.1:p.Leu2372=
XM_011540042.1:c.7086T>C XP_011538344.1:p.Leu2362=
XM_011540043.1:c.7176T>C XP_011538345.1:p.Leu2392=
XM_011540044.1:c.7041T>C XP_011538346.1:p.Leu2347=
XM_011540045.1:c.7176T>C XP_011538347.1:p.Leu2392=
XM_011540046.1:c.6636T>C XP_011538348.1:p.Leu2212=
XM_011540047.1:c.5994T>C XP_011538349.1:p.Leu1998=
XM_011540052.1:c.3504T>C XP_011538354.1:p.Leu1168=
NM_022124.6:c.6981T>C MANE Select NP_071407.4:p.Leu2327=