Canonical Allele Identifier: CA377154547
Gene: CDH23 HGNC NCBI
C10orf105 HGNC NCBI

Linked Data

dbSNP Id: rs1839338138

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71730536T>C , CM000672.2:g.71730536T>C GRCh38
NC_000010.10:g.73490293T>C , CM000672.1:g.73490293T>C GRCh37
NC_000010.9:g.73160299T>C NCBI36
NG_008835.1:g.338590T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.3647T>C (CDH23) MANE Select ENSP00000224721.9:p.Leu1216Pro
ENST00000398809.9:c.3644T>C (CDH23) ENSP00000381789.5:p.Leu1215Pro
ENST00000224721.10:c.3662T>C (CDH23) ENSP00000224721.8:p.Leu1221Pro
ENST00000398786.2:c.-6+7192A>G (C10orf105) ENSP00000381766.3:n.-6+7192A>G
ENST00000398792.3:n.339T>C (CDH23)
ENST00000398809.8:c.3644T>C (CDH23) ENSP00000381789.5:p.Leu1215Pro
ENST00000616684.4:c.3647T>C (CDH23) ENSP00000482036.2:p.Leu1216Pro
ENST00000622827.4:c.3647T>C (CDH23) ENSP00000483211.1:p.Leu1216Pro
NM_001168390.1:c.-6+7192A>G (C10orf105) NP_001161862.1:n.-6+7192A>G
NM_001171930.1:c.3647T>C (CDH23) NP_001165401.1:p.Leu1216Pro
NM_022124.5:c.3647T>C (CDH23) NP_071407.4:p.Leu1216Pro
XM_006717940.2:c.3842T>C (CDH23) XP_006718003.1:p.Leu1281Pro
XM_006717942.2:c.3776T>C (CDH23) XP_006718005.1:p.Leu1259Pro
XM_011540039.1:c.3842T>C (CDH23) XP_011538341.1:p.Leu1281Pro
XM_011540040.1:c.3836T>C (CDH23) XP_011538342.1:p.Leu1279Pro
XM_011540041.1:c.3782T>C (CDH23) XP_011538343.1:p.Leu1261Pro
XM_011540042.1:c.3842T>C (CDH23) XP_011538344.1:p.Leu1281Pro
XM_011540043.1:c.3842T>C (CDH23) XP_011538345.1:p.Leu1281Pro
XM_011540044.1:c.3707T>C (CDH23) XP_011538346.1:p.Leu1236Pro
XM_011540045.1:c.3842T>C (CDH23) XP_011538347.1:p.Leu1281Pro
XM_011540046.1:c.3302T>C (CDH23) XP_011538348.1:p.Leu1101Pro
XM_011540047.1:c.2660T>C (CDH23) XP_011538349.1:p.Leu887Pro
XM_011540048.1:c.3842T>C (CDH23) XP_011538350.1:p.Leu1281Pro
XM_011540049.1:c.3842T>C (CDH23) XP_011538351.1:p.Leu1281Pro
XM_011540050.1:c.3842T>C (CDH23) XP_011538352.1:p.Leu1281Pro
XM_011540051.1:c.3842T>C (CDH23) XP_011538353.1:p.Leu1281Pro
XM_011540052.1:c.170T>C (CDH23) XP_011538354.1:p.Leu57Pro
XM_011540053.1:c.3842T>C (CDH23) XP_011538355.1:p.Leu1281Pro
XR_945796.1:n.4085T>C (CDH23)
NM_001168390.2:c.-6+7192A>G (C10orf105) NP_001161862.1:n.-6+7192A>G
NM_001171930.2:c.3647T>C (CDH23) NP_001165401.1:p.Leu1216Pro
NM_022124.6:c.3647T>C (CDH23) MANE Select NP_071407.4:p.Leu1216Pro