Canonical Allele Identifier: CA1955171760
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17498290G= , CM000673.2:g.17498290G= GRCh38
NC_000011.9:g.17519837G= , CM000673.1:g.17519837G= GRCh37
NC_000011.8:g.17476413G= NCBI36
NG_011883.1:g.51127C=
NG_011883.2:g.51127C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2381-19C= MANE Select ENSP00000005226.7:n.2381-19C=
ENST00000318024.9:c.1481-19C= MANE Plus Clinical ENSP00000317018.4:n.1481-19C=
ENST00000005226.11:c.2381-19C= ENSP00000005226.7:n.2381-19C=
ENST00000318024.8:c.1481-19C= ENSP00000317018.4:n.1481-19C=
ENST00000526313.5:c.*195-19C= ENSP00000432236.1:n.*195-19C=
ENST00000527020.5:c.1424-19C= ENSP00000436934.1:n.1424-19C=
ENST00000527720.5:c.1388-19C= ENSP00000432944.1:n.1388-19C=
ENST00000529563.5:n.365-19C=
NM_001297764.1:c.1424-19C= NP_001284693.1:n.1424-19C=
NM_005709.3:c.1481-19C= NP_005700.2:n.1481-19C=
NM_153676.3:c.2381-19C= NP_710142.1:n.2381-19C=
NR_123738.1:n.1516-19C=
XM_011519831.1:c.2405-19C= XP_011518133.1:n.2405-19C=
XM_011519832.1:c.1634-19C= XP_011518134.1:n.1634-19C=
XM_011519832.3:c.1634-19C= XP_011518134.1:n.1634-19C=
XM_017017075.1:c.2381-19C= XP_016872564.1:n.2381-19C=
XR_001747717.2:n.1640-19C=
NM_153676.4:c.2381-19C= MANE Select NP_710142.1:n.2381-19C=
NM_001297764.2:c.1424-19C= NP_001284693.1:n.1424-19C=
NM_005709.4:c.1481-19C= MANE Plus Clinical NP_005700.2:n.1481-19C=
NR_123738.2:n.1516-19C=