Canonical Allele Identifier: CA1955173300
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17501234C= , CM000673.2:g.17501234C= GRCh38
NC_000011.9:g.17522781C= , CM000673.1:g.17522781C= GRCh37
NC_000011.8:g.17479357C= NCBI36
NG_011883.1:g.48183G=
NG_011883.2:g.48183G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2281-84G= MANE Select ENSP00000005226.7:n.2281-84G=
ENST00000318024.9:c.1381-84G= MANE Plus Clinical ENSP00000317018.4:n.1381-84G=
ENST00000005226.11:c.2281-84G= ENSP00000005226.7:n.2281-84G=
ENST00000318024.8:c.1381-84G= ENSP00000317018.4:n.1381-84G=
ENST00000526313.5:c.*95-84G= ENSP00000432236.1:n.*95-84G=
ENST00000527020.5:c.1324-84G= ENSP00000436934.1:n.1324-84G=
ENST00000527720.5:c.1288-84G= ENSP00000432944.1:n.1288-84G=
ENST00000529563.5:n.265-84G=
ENST00000534556.1:n.166-84G=
NM_001297764.1:c.1324-84G= NP_001284693.1:n.1324-84G=
NM_005709.3:c.1381-84G= NP_005700.2:n.1381-84G=
NM_153676.3:c.2281-84G= NP_710142.1:n.2281-84G=
NR_123738.1:n.1416-84G=
XM_011519831.1:c.2305-84G= XP_011518133.1:n.2305-84G=
XM_011519832.1:c.1534-84G= XP_011518134.1:n.1534-84G=
XM_011519833.1:c.1431-84G= XP_011518135.1:n.1431-84G=
XR_930841.1:n.1752-84G=
XR_930842.1:n.1693-84G=
XM_011519832.3:c.1534-84G= XP_011518134.1:n.1534-84G=
XM_017017075.1:c.2281-84G= XP_016872564.1:n.2281-84G=
XR_001747717.2:n.1540-84G=
NM_153676.4:c.2281-84G= MANE Select NP_710142.1:n.2281-84G=
NM_001297764.2:c.1324-84G= NP_001284693.1:n.1324-84G=
NM_005709.4:c.1381-84G= MANE Plus Clinical NP_005700.2:n.1381-84G=
NR_123738.2:n.1416-84G=