Canonical Allele Identifier: CA470057945
Gene: CDH23 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.73405605T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71645848T>C , CM000672.2:g.71645848T>C GRCh38
NC_000010.10:g.73405605T>C , CM000672.1:g.73405605T>C GRCh37
NC_000010.9:g.73075611T>C NCBI36
NG_008835.1:g.253902T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.1158T>C MANE Select ENSP00000224721.9:p.Phe386=
ENST00000398809.9:c.1158T>C ENSP00000381789.5:p.Phe386=
ENST00000442677.4:c.1158T>C ENSP00000388894.3:p.Phe386=
ENST00000466757.8:c.589T>C
ENST00000643732.1:n.994T>C
ENST00000646131.1:c.822T>C ENSP00000495098.1:p.Phe274=
ENST00000224721.10:c.1173T>C ENSP00000224721.8:p.Phe391=
ENST00000299366.11:c.1158T>C ENSP00000299366.8:p.Phe386=
ENST00000398809.8:c.1158T>C ENSP00000381789.5:p.Phe386=
ENST00000398842.7:c.903T>C ENSP00000381822.4:p.Phe301=
ENST00000461841.7:c.1158T>C ENSP00000473454.2:p.Phe386=
ENST00000466757.7:c.589T>C
ENST00000470494.5:c.127T>C
ENST00000616684.4:c.1158T>C ENSP00000482036.2:p.Phe386=
ENST00000622827.4:c.1158T>C ENSP00000483211.1:p.Phe386=
NM_001171930.1:c.1158T>C NP_001165401.1:p.Phe386=
NM_001171931.1:c.1158T>C NP_001165402.1:p.Phe386=
NM_022124.5:c.1158T>C NP_071407.4:p.Phe386=
NM_052836.3:c.1158T>C NP_443068.1:p.Phe386=
XM_006717940.2:c.1353T>C XP_006718003.1:p.Phe451=
XM_006717942.2:c.1287T>C XP_006718005.1:p.Phe429=
XM_011540039.1:c.1353T>C XP_011538341.1:p.Phe451=
XM_011540040.1:c.1347T>C XP_011538342.1:p.Phe449=
XM_011540041.1:c.1293T>C XP_011538343.1:p.Phe431=
XM_011540042.1:c.1353T>C XP_011538344.1:p.Phe451=
XM_011540043.1:c.1353T>C XP_011538345.1:p.Phe451=
XM_011540044.1:c.1218T>C XP_011538346.1:p.Phe406=
XM_011540045.1:c.1353T>C XP_011538347.1:p.Phe451=
XM_011540046.1:c.813T>C XP_011538348.1:p.Phe271=
XM_011540047.1:c.171T>C XP_011538349.1:p.Phe57=
XM_011540048.1:c.1353T>C XP_011538350.1:p.Phe451=
XM_011540049.1:c.1353T>C XP_011538351.1:p.Phe451=
XM_011540050.1:c.1353T>C XP_011538352.1:p.Phe451=
XM_011540051.1:c.1353T>C XP_011538353.1:p.Phe451=
XM_011540053.1:c.1353T>C XP_011538355.1:p.Phe451=
XM_011540054.1:c.1293T>C XP_011538356.1:p.Phe431=
XR_945796.1:n.1596T>C
NM_001171930.2:c.1158T>C NP_001165401.1:p.Phe386=
NM_001171931.2:c.1158T>C NP_001165402.1:p.Phe386=
NM_022124.6:c.1158T>C MANE Select NP_071407.4:p.Phe386=
NM_052836.4:c.1158T>C NP_443068.1:p.Phe386=