Canonical Allele Identifier: CA379802997
Gene: USH1C HGNC NCBI

Linked Data

ClinVar Variation Id: 2269681
dbSNP Id: rs1849423397

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17501083G>A , CM000673.2:g.17501083G>A GRCh38
NC_000011.9:g.17522630G>A , CM000673.1:g.17522630G>A GRCh37
NC_000011.8:g.17479206G>A NCBI36
NG_011883.1:g.48334C>T
NG_011883.2:g.48334C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2348C>T MANE Select ENSP00000005226.7:p.Ala783Val
ENST00000318024.9:c.1448C>T MANE Plus Clinical ENSP00000317018.4:p.Ala483Val
ENST00000005226.11:c.2348C>T ENSP00000005226.7:p.Ala783Val
ENST00000318024.8:c.1448C>T ENSP00000317018.4:p.Ala483Val
ENST00000526313.5:c.*162C>T ENSP00000432236.1:n.*162C>T
ENST00000527020.5:c.1391C>T ENSP00000436934.1:p.Ala464Val
ENST00000527720.5:c.1355C>T ENSP00000432944.1:p.Ala452Val
ENST00000529563.5:n.332C>T
ENST00000534556.1:n.233C>T
NM_001297764.1:c.1391C>T NP_001284693.1:p.Ala464Val
NM_005709.3:c.1448C>T NP_005700.2:p.Ala483Val
NM_153676.3:c.2348C>T NP_710142.1:p.Ala783Val
NR_123738.1:n.1483C>T
XM_011519831.1:c.2372C>T XP_011518133.1:p.Ala791Val
XM_011519832.1:c.1601C>T XP_011518134.1:p.Ala534Val
XM_011519833.1:c.*55C>T XP_011518135.1:n.*55C>T
XR_930841.1:n.1819C>T
XR_930842.1:n.1760C>T
XM_011519832.3:c.1601C>T XP_011518134.1:p.Ala534Val
XM_017017075.1:c.2348C>T XP_016872564.1:p.Ala783Val
XR_001747717.2:n.1607C>T
NM_153676.4:c.2348C>T MANE Select NP_710142.1:p.Ala783Val
NM_001297764.2:c.1391C>T NP_001284693.1:p.Ala464Val
NM_005709.4:c.1448C>T MANE Plus Clinical NP_005700.2:p.Ala483Val
NR_123738.2:n.1483C>T