Canonical Allele Identifier: CA5904262
Gene: USH1C HGNC NCBI

Linked Data

ClinVar Variation Id: 878538
dbSNP Id: rs751998841

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17501509C>T , CM000673.2:g.17501509C>T GRCh38
NC_000011.9:g.17523056C>T , CM000673.1:g.17523056C>T GRCh37
NC_000011.8:g.17479632C>T NCBI36
NG_011883.1:g.47908G>A
NG_011883.2:g.47908G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2253G>A MANE Select ENSP00000005226.7:p.Lys751=
ENST00000318024.9:c.1353G>A MANE Plus Clinical ENSP00000317018.4:p.Lys451=
ENST00000005226.11:c.2253G>A ENSP00000005226.7:p.Lys751=
ENST00000318024.8:c.1353G>A ENSP00000317018.4:p.Lys451=
ENST00000526313.5:c.*67G>A ENSP00000432236.1:n.*67G>A
ENST00000527020.5:c.1296G>A ENSP00000436934.1:p.Lys432=
ENST00000527720.5:c.1260G>A ENSP00000432944.1:p.Lys420=
ENST00000529563.5:n.237G>A
ENST00000534556.1:n.138G>A
NM_001297764.1:c.1296G>A NP_001284693.1:p.Lys432=
NM_005709.3:c.1353G>A NP_005700.2:p.Lys451=
NM_153676.3:c.2253G>A NP_710142.1:p.Lys751=
NR_123738.1:n.1388G>A
XM_011519831.1:c.2277G>A XP_011518133.1:p.Lys759=
XM_011519832.1:c.1506G>A XP_011518134.1:p.Lys502=
XM_011519833.1:c.1403G>A XP_011518135.1:p.Arg468Lys
XR_930841.1:n.1724G>A
XR_930842.1:n.1665G>A
XM_011519832.3:c.1506G>A XP_011518134.1:p.Lys502=
XM_017017075.1:c.2253G>A XP_016872564.1:p.Lys751=
XR_001747717.2:n.1512G>A
NM_153676.4:c.2253G>A MANE Select NP_710142.1:p.Lys751=
NM_001297764.2:c.1296G>A NP_001284693.1:p.Lys432=
NM_005709.4:c.1353G>A MANE Plus Clinical NP_005700.2:p.Lys451=
NR_123738.2:n.1388G>A