Canonical Allele Identifier: CA473516368
Gene: USH1C HGNC NCBI

Linked Data

ClinVar Variation Id: 764358
ClinVar RCV Id: RCV000942692
dbSNP Id: rs1388399222

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17509380T>C , CM000673.2:g.17509380T>C GRCh38
NC_000011.9:g.17530927T>C , CM000673.1:g.17530927T>C GRCh37
NC_000011.8:g.17487503T>C NCBI36
NG_011883.1:g.40037A>G
NG_011883.2:g.40037A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.1989A>G MANE Select ENSP00000005226.7:p.Glu663=
ENST00000318024.9:c.1285-7400A>G MANE Plus Clinical ENSP00000317018.4:n.1285-7400A>G
ENST00000005226.11:c.1989A>G ENSP00000005226.7:p.Glu663=
ENST00000318024.8:c.1285-7400A>G ENSP00000317018.4:n.1285-7400A>G
ENST00000526313.5:c.1211-7400A>G ENSP00000432236.1:n.1211-7400A>G
ENST00000527020.5:c.1228-7400A>G ENSP00000436934.1:n.1228-7400A>G
ENST00000527720.5:c.1192-7400A>G ENSP00000432944.1:n.1192-7400A>G
ENST00000529563.5:n.168+7075A>G
NM_001297764.1:c.1228-7400A>G NP_001284693.1:n.1228-7400A>G
NM_005709.3:c.1285-7400A>G NP_005700.2:n.1285-7400A>G
NM_153676.3:c.1989A>G NP_710142.1:p.Glu663=
NR_123738.1:n.1320-7400A>G
XM_011519831.1:c.2013A>G XP_011518133.1:p.Glu671=
XM_011519832.1:c.1437+2522A>G XP_011518134.1:n.1437+2522A>G
XM_011519833.1:c.1334+6861A>G XP_011518135.1:n.1334+6861A>G
XR_930841.1:n.1655+2522A>G
XR_930842.1:n.1596+2522A>G
XM_011519832.3:c.1437+2522A>G XP_011518134.1:n.1437+2522A>G
XM_017017072.1:c.2013A>G XP_016872561.1:p.Glu671=
XM_017017073.1:c.1956A>G XP_016872562.1:p.Glu652=
XM_017017074.1:c.1555-151A>G XP_016872563.1:n.1555-151A>G
XM_017017075.1:c.1989A>G XP_016872564.1:p.Glu663=
XR_001747717.2:n.1443+6861A>G
NM_153676.4:c.1989A>G MANE Select NP_710142.1:p.Glu663=
NM_001297764.2:c.1228-7400A>G NP_001284693.1:n.1228-7400A>G
NM_005709.4:c.1285-7400A>G MANE Plus Clinical NP_005700.2:n.1285-7400A>G
NR_123738.2:n.1320-7400A>G