Canonical Allele Identifier: CA377160290
Gene: CDH23 HGNC NCBI

Linked Data

dbSNP Id: rs1839713716

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71740825G>A , CM000672.2:g.71740825G>A GRCh38
NC_000010.10:g.73500582G>A , CM000672.1:g.73500582G>A GRCh37
NC_000010.9:g.73170588G>A NCBI36
NG_008835.1:g.348879G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.4492G>A MANE Select ENSP00000224721.9:p.Val1498Met
ENST00000224721.10:c.4507G>A ENSP00000224721.8:p.Val1503Met
ENST00000398792.3:n.1181G>A
ENST00000622827.4:c.4492G>A ENSP00000483211.1:p.Val1498Met
NM_022124.5:c.4492G>A NP_071407.4:p.Val1498Met
XM_006717940.2:c.4687G>A XP_006718003.1:p.Val1563Met
XM_006717942.2:c.4621G>A XP_006718005.1:p.Val1541Met
XM_011540039.1:c.4684G>A XP_011538341.1:p.Val1562Met
XM_011540040.1:c.4681G>A XP_011538342.1:p.Val1561Met
XM_011540041.1:c.4627G>A XP_011538343.1:p.Val1543Met
XM_011540042.1:c.4687G>A XP_011538344.1:p.Val1563Met
XM_011540043.1:c.4687G>A XP_011538345.1:p.Val1563Met
XM_011540044.1:c.4552G>A XP_011538346.1:p.Val1518Met
XM_011540045.1:c.4687G>A XP_011538347.1:p.Val1563Met
XM_011540046.1:c.4147G>A XP_011538348.1:p.Val1383Met
XM_011540047.1:c.3505G>A XP_011538349.1:p.Val1169Met
XM_011540048.1:c.4687G>A XP_011538350.1:p.Val1563Met
XM_011540049.1:c.4687G>A XP_011538351.1:p.Val1563Met
XM_011540050.1:c.4687G>A XP_011538352.1:p.Val1563Met
XM_011540051.1:c.4687G>A XP_011538353.1:p.Val1563Met
XM_011540052.1:c.1015G>A XP_011538354.1:p.Val339Met
XM_011540053.1:c.4687G>A XP_011538355.1:p.Val1563Met
XR_945796.1:n.4930G>A
NM_022124.6:c.4492G>A MANE Select NP_071407.4:p.Val1498Met