Canonical Allele Identifier: CA5545943
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 300448
dbSNP Id: rs373457993

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71790295T>C , CM000672.2:g.71790295T>C GRCh38
NC_000010.10:g.73550052T>C , CM000672.1:g.73550052T>C GRCh37
NC_000010.9:g.73220058T>C NCBI36
NG_008835.1:g.398349T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.5931T>C MANE Select ENSP00000224721.9:p.Pro1977=
ENST00000224721.10:c.5946T>C ENSP00000224721.8:p.Pro1982=
ENST00000622827.4:c.5931T>C ENSP00000483211.1:p.Pro1977=
NM_022124.5:c.5931T>C NP_071407.4:p.Pro1977=
XM_006717940.2:c.6126T>C XP_006718003.1:p.Pro2042=
XM_006717942.2:c.6060T>C XP_006718005.1:p.Pro2020=
XM_011540039.1:c.6123T>C XP_011538341.1:p.Pro2041=
XM_011540040.1:c.6120T>C XP_011538342.1:p.Pro2040=
XM_011540041.1:c.6066T>C XP_011538343.1:p.Pro2022=
XM_011540042.1:c.6126T>C XP_011538344.1:p.Pro2042=
XM_011540043.1:c.6126T>C XP_011538345.1:p.Pro2042=
XM_011540044.1:c.5991T>C XP_011538346.1:p.Pro1997=
XM_011540045.1:c.6126T>C XP_011538347.1:p.Pro2042=
XM_011540046.1:c.5586T>C XP_011538348.1:p.Pro1862=
XM_011540047.1:c.4944T>C XP_011538349.1:p.Pro1648=
XM_011540048.1:c.6126T>C XP_011538350.1:p.Pro2042=
XM_011540049.1:c.6126T>C XP_011538351.1:p.Pro2042=
XM_011540050.1:c.6126T>C XP_011538352.1:p.Pro2042=
XM_011540051.1:c.6126T>C XP_011538353.1:p.Pro2042=
XM_011540052.1:c.2454T>C XP_011538354.1:p.Pro818=
XR_945796.1:n.6369T>C
NM_022124.6:c.5931T>C MANE Select NP_071407.4:p.Pro1977=