Canonical Allele Identifier: CA5544750
Community Standard Title: NM_022124.6(CDH23):c.3508C>T (p.Arg1170Trp)
Gene: CDH23 HGNC NCBI
C10orf105 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71725449C>T , CM000672.2:g.71725449C>T GRCh38
NC_000010.10:g.73485206C>T , CM000672.1:g.73485206C>T GRCh37
NC_000010.9:g.73155212C>T NCBI36
NG_008835.1:g.333503C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.3508C>T (CDH23) MANE Select NP_071407.4:p.Arg1170Trp
ENST00000224721.12:c.3508C>T (CDH23) MANE Select ENSP00000224721.9:p.Arg1170Trp
NM_001168390.1:c.-5-9107G>A (C10orf105) NP_001161862.1:n.-5-9107G>A
NM_001168390.2:c.-5-9107G>A (C10orf105) NP_001161862.1:n.-5-9107G>A
NM_001171930.1:c.3508C>T (CDH23) NP_001165401.1:p.Arg1170Trp
NM_001171930.2:c.3508C>T (CDH23) NP_001165401.1:p.Arg1170Trp
NM_022124.5:c.3508C>T (CDH23) NP_071407.4:p.Arg1170Trp
ENST00000224721.10:c.3523C>T (CDH23) ENSP00000224721.8:p.Arg1175Trp
ENST00000398786.2:c.-5-9107G>A (C10orf105) ENSP00000381766.3:n.-5-9107G>A
ENST00000398792.3:n.271+1344C>T (CDH23)
ENST00000398809.8:c.3505C>T (CDH23) ENSP00000381789.5:p.Arg1169Trp
ENST00000398809.9:c.3505C>T (CDH23) ENSP00000381789.5:p.Arg1169Trp
ENST00000616684.4:c.3508C>T (CDH23) ENSP00000482036.2:p.Arg1170Trp
ENST00000622827.4:c.3508C>T (CDH23) ENSP00000483211.1:p.Arg1170Trp
XM_006717940.2:c.3703C>T (CDH23) XP_006718003.1:p.Arg1235Trp
XM_006717942.2:c.3637C>T (CDH23) XP_006718005.1:p.Arg1213Trp
XM_011539810.1:c.-6+958G>A (C10orf105) XP_011538112.1:n.-6+958G>A
XM_011540039.1:c.3703C>T (CDH23) XP_011538341.1:p.Arg1235Trp
XM_011540040.1:c.3697C>T (CDH23) XP_011538342.1:p.Arg1233Trp
XM_011540041.1:c.3643C>T (CDH23) XP_011538343.1:p.Arg1215Trp
XM_011540042.1:c.3703C>T (CDH23) XP_011538344.1:p.Arg1235Trp
XM_011540043.1:c.3703C>T (CDH23) XP_011538345.1:p.Arg1235Trp
XM_011540044.1:c.3568C>T (CDH23) XP_011538346.1:p.Arg1190Trp
XM_011540045.1:c.3703C>T (CDH23) XP_011538347.1:p.Arg1235Trp
XM_011540046.1:c.3163C>T (CDH23) XP_011538348.1:p.Arg1055Trp
XM_011540047.1:c.2521C>T (CDH23) XP_011538349.1:p.Arg841Trp
XM_011540048.1:c.3703C>T (CDH23) XP_011538350.1:p.Arg1235Trp
XM_011540049.1:c.3703C>T (CDH23) XP_011538351.1:p.Arg1235Trp
XM_011540050.1:c.3703C>T (CDH23) XP_011538352.1:p.Arg1235Trp
XM_011540051.1:c.3703C>T (CDH23) XP_011538353.1:p.Arg1235Trp
XM_011540052.1:c.31C>T (CDH23) XP_011538354.1:p.Arg11Trp
XM_011540053.1:c.3703C>T (CDH23) XP_011538355.1:p.Arg1235Trp
XR_945796.1:n.3946C>T (CDH23)