Canonical Allele Identifier: CA142315
Gene: USH1C HGNC NCBI

Linked Data

ClinVar Variation Id: 47986
dbSNP Id: rs149510892
COSMIC: COSM294935

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17509463G>A , CM000673.2:g.17509463G>A GRCh38
NC_000011.9:g.17531010G>A , CM000673.1:g.17531010G>A GRCh37
NC_000011.8:g.17487586G>A NCBI36
NG_011883.1:g.39954C>T
NG_011883.2:g.39954C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000005226.12:c.1906C>T MANE Select ENSP00000005226.7:p.Arg636Cys
ENST00000318024.9:c.1285-7483C>T MANE Plus Clinical ENSP00000317018.4:n.1285-7483C>T
ENST00000005226.11:c.1906C>T ENSP00000005226.7:p.Arg636Cys
ENST00000318024.8:c.1285-7483C>T ENSP00000317018.4:n.1285-7483C>T
ENST00000526313.5:c.1211-7483C>T ENSP00000432236.1:n.1211-7483C>T
ENST00000527020.5:c.1228-7483C>T ENSP00000436934.1:n.1228-7483C>T
ENST00000527720.5:c.1192-7483C>T ENSP00000432944.1:n.1192-7483C>T
ENST00000529563.5:n.168+6992C>T
NM_001297764.1:c.1228-7483C>T NP_001284693.1:n.1228-7483C>T
NM_005709.3:c.1285-7483C>T NP_005700.2:n.1285-7483C>T
NM_153676.3:c.1906C>T NP_710142.1:p.Arg636Cys
NR_123738.1:n.1320-7483C>T
XM_011519831.1:c.1930C>T XP_011518133.1:p.Arg644Cys
XM_011519832.1:c.1437+2439C>T XP_011518134.1:n.1437+2439C>T
XM_011519833.1:c.1334+6778C>T XP_011518135.1:n.1334+6778C>T
XR_930841.1:n.1655+2439C>T
XR_930842.1:n.1596+2439C>T
XM_011519832.3:c.1437+2439C>T XP_011518134.1:n.1437+2439C>T
XM_017017072.1:c.1930C>T XP_016872561.1:p.Arg644Cys
XM_017017073.1:c.1873C>T XP_016872562.1:p.Arg625Cys
XM_017017074.1:c.1555-234C>T XP_016872563.1:n.1555-234C>T
XM_017017075.1:c.1906C>T XP_016872564.1:p.Arg636Cys
XR_001747717.2:n.1443+6778C>T
NM_153676.4:c.1906C>T MANE Select NP_710142.1:p.Arg636Cys
NM_001297764.2:c.1228-7483C>T NP_001284693.1:n.1228-7483C>T
NM_005709.4:c.1285-7483C>T MANE Plus Clinical NP_005700.2:n.1285-7483C>T
NR_123738.2:n.1320-7483C>T