Canonical Allele Identifier: CA377144718
Community Standard Title: NM_001164375.3(C10orf105):c.*3164T>G
Gene: CDH23 HGNC NCBI
C10orf105 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71712772A>C , CM000672.2:g.71712772A>C GRCh38
NC_000010.10:g.73472529A>C , CM000672.1:g.73472529A>C GRCh37
NC_000010.9:g.73142535A>C NCBI36
NG_008835.1:g.320826A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001164375.3:c.*3164T>G (C10orf105) MANE Select NP_001157847.1:n.*3164T>G
NM_022124.6:c.3328A>C (CDH23) MANE Select NP_071407.4:p.Ser1110Arg
ENST00000224721.12:c.3328A>C (CDH23) MANE Select ENSP00000224721.9:p.Ser1110Arg
ENST00000441508.4:c.*3164T>G (C10orf105) MANE Select ENSP00000403151.2:n.*3164T>G
NM_001164375.2:c.*3164T>G (C10orf105) NP_001157847.1:n.*3164T>G
NM_001168390.1:c.*3164T>G (C10orf105) NP_001161862.1:n.*3164T>G
NM_001168390.2:c.*3164T>G (C10orf105) NP_001161862.1:n.*3164T>G
NM_001171930.1:c.3328A>C (CDH23) NP_001165401.1:p.Ser1110Arg
NM_001171930.2:c.3328A>C (CDH23) NP_001165401.1:p.Ser1110Arg
NM_022124.5:c.3328A>C (CDH23) NP_071407.4:p.Ser1110Arg
ENST00000224721.10:c.3343A>C (CDH23) ENSP00000224721.8:p.Ser1115Arg
ENST00000398786.2:c.*3164T>G (C10orf105) ENSP00000381766.3:n.*3164T>G
ENST00000398792.3:n.169A>C (CDH23)
ENST00000398809.8:c.3328A>C (CDH23) ENSP00000381789.5:p.Ser1110Arg
ENST00000398809.9:c.3328A>C (CDH23) ENSP00000381789.5:p.Ser1110Arg
ENST00000441508.2:c.*3164T>G (C10orf105) ENSP00000403151.2:n.*3164T>G
ENST00000442677.3:c.2103A>C (CDH23)
ENST00000442677.4:c.3328A>C (CDH23) ENSP00000388894.3:p.Ser1110Arg
ENST00000466757.7:c.2759A>C (CDH23)
ENST00000466757.8:c.2759A>C (CDH23)
ENST00000616684.4:c.3328A>C (CDH23) ENSP00000482036.2:p.Ser1110Arg
ENST00000622827.4:c.3328A>C (CDH23) ENSP00000483211.1:p.Ser1110Arg
XM_006717940.2:c.3523A>C (CDH23) XP_006718003.1:p.Ser1175Arg
XM_006717942.2:c.3457A>C (CDH23) XP_006718005.1:p.Ser1153Arg
XM_011539808.2:c.*3164T>G (C10orf105) XP_011538110.1:n.*3164T>G
XM_011539809.2:c.*3164T>G (C10orf105) XP_011538111.1:n.*3164T>G
XM_011540039.1:c.3523A>C (CDH23) XP_011538341.1:p.Ser1175Arg
XM_011540040.1:c.3517A>C (CDH23) XP_011538342.1:p.Ser1173Arg
XM_011540041.1:c.3463A>C (CDH23) XP_011538343.1:p.Ser1155Arg
XM_011540042.1:c.3523A>C (CDH23) XP_011538344.1:p.Ser1175Arg
XM_011540043.1:c.3523A>C (CDH23) XP_011538345.1:p.Ser1175Arg
XM_011540044.1:c.3388A>C (CDH23) XP_011538346.1:p.Ser1130Arg
XM_011540045.1:c.3523A>C (CDH23) XP_011538347.1:p.Ser1175Arg
XM_011540046.1:c.2983A>C (CDH23) XP_011538348.1:p.Ser995Arg
XM_011540047.1:c.2341A>C (CDH23) XP_011538349.1:p.Ser781Arg
XM_011540048.1:c.3523A>C (CDH23) XP_011538350.1:p.Ser1175Arg
XM_011540049.1:c.3523A>C (CDH23) XP_011538351.1:p.Ser1175Arg
XM_011540050.1:c.3523A>C (CDH23) XP_011538352.1:p.Ser1175Arg
XM_011540051.1:c.3523A>C (CDH23) XP_011538353.1:p.Ser1175Arg
XM_011540053.1:c.3523A>C (CDH23) XP_011538355.1:p.Ser1175Arg
XR_945796.1:n.3766A>C (CDH23)