Canonical Allele Identifier: CA5904257
Gene: USH1C HGNC NCBI

Linked Data

ClinVar Variation Id: 500843
dbSNP Id: rs151251262

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17501497G>A , CM000673.2:g.17501497G>A GRCh38
NC_000011.9:g.17523044G>A , CM000673.1:g.17523044G>A GRCh37
NC_000011.8:g.17479620G>A NCBI36
NG_011883.1:g.47920C>T
NG_011883.2:g.47920C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2265C>T MANE Select ENSP00000005226.7:p.Leu755=
ENST00000318024.9:c.1365C>T MANE Plus Clinical ENSP00000317018.4:p.Leu455=
ENST00000005226.11:c.2265C>T ENSP00000005226.7:p.Leu755=
ENST00000318024.8:c.1365C>T ENSP00000317018.4:p.Leu455=
ENST00000526313.5:c.*79C>T ENSP00000432236.1:n.*79C>T
ENST00000527020.5:c.1308C>T ENSP00000436934.1:p.Leu436=
ENST00000527720.5:c.1272C>T ENSP00000432944.1:p.Leu424=
ENST00000529563.5:n.249C>T
ENST00000534556.1:n.150C>T
NM_001297764.1:c.1308C>T NP_001284693.1:p.Leu436=
NM_005709.3:c.1365C>T NP_005700.2:p.Leu455=
NM_153676.3:c.2265C>T NP_710142.1:p.Leu755=
NR_123738.1:n.1400C>T
XM_011519831.1:c.2289C>T XP_011518133.1:p.Leu763=
XM_011519832.1:c.1518C>T XP_011518134.1:p.Leu506=
XM_011519833.1:c.1415C>T XP_011518135.1:p.Ser472Phe
XR_930841.1:n.1736C>T
XR_930842.1:n.1677C>T
XM_011519832.3:c.1518C>T XP_011518134.1:p.Leu506=
XM_017017075.1:c.2265C>T XP_016872564.1:p.Leu755=
XR_001747717.2:n.1524C>T
NM_153676.4:c.2265C>T MANE Select NP_710142.1:p.Leu755=
NM_001297764.2:c.1308C>T NP_001284693.1:p.Leu436=
NM_005709.4:c.1365C>T MANE Plus Clinical NP_005700.2:p.Leu455=
NR_123738.2:n.1400C>T