Canonical Allele Identifier: CA1955173342
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17501322C= , CM000673.2:g.17501322C= GRCh38
NC_000011.9:g.17522869C= , CM000673.1:g.17522869C= GRCh37
NC_000011.8:g.17479445C= NCBI36
NG_011883.1:g.48095G=
NG_011883.2:g.48095G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2280+160G= MANE Select ENSP00000005226.7:n.2280+160G=
ENST00000318024.9:c.1380+160G= MANE Plus Clinical ENSP00000317018.4:n.1380+160G=
ENST00000005226.11:c.2280+160G= ENSP00000005226.7:n.2280+160G=
ENST00000318024.8:c.1380+160G= ENSP00000317018.4:n.1380+160G=
ENST00000526313.5:c.*94+160G= ENSP00000432236.1:n.*94+160G=
ENST00000527020.5:c.1323+160G= ENSP00000436934.1:n.1323+160G=
ENST00000527720.5:c.1287+160G= ENSP00000432944.1:n.1287+160G=
ENST00000529563.5:n.264+160G=
ENST00000534556.1:n.165+160G=
NM_001297764.1:c.1323+160G= NP_001284693.1:n.1323+160G=
NM_005709.3:c.1380+160G= NP_005700.2:n.1380+160G=
NM_153676.3:c.2280+160G= NP_710142.1:n.2280+160G=
NR_123738.1:n.1415+160G=
XM_011519831.1:c.2304+160G= XP_011518133.1:n.2304+160G=
XM_011519832.1:c.1533+160G= XP_011518134.1:n.1533+160G=
XM_011519833.1:c.1430+160G= XP_011518135.1:n.1430+160G=
XR_930841.1:n.1751+160G=
XR_930842.1:n.1692+160G=
XM_011519832.3:c.1533+160G= XP_011518134.1:n.1533+160G=
XM_017017075.1:c.2280+160G= XP_016872564.1:n.2280+160G=
XR_001747717.2:n.1539+160G=
NM_153676.4:c.2280+160G= MANE Select NP_710142.1:n.2280+160G=
NM_001297764.2:c.1323+160G= NP_001284693.1:n.1323+160G=
NM_005709.4:c.1380+160G= MANE Plus Clinical NP_005700.2:n.1380+160G=
NR_123738.2:n.1415+160G=