Canonical Allele Identifier: CA1955173158
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17500990G= , CM000673.2:g.17500990G= GRCh38
NC_000011.9:g.17522537G= , CM000673.1:g.17522537G= GRCh37
NC_000011.8:g.17479113G= NCBI36
NG_011883.1:g.48427C=
NG_011883.2:g.48427C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2380+61C= MANE Select ENSP00000005226.7:n.2380+61C=
ENST00000318024.9:c.1480+61C= MANE Plus Clinical ENSP00000317018.4:n.1480+61C=
ENST00000005226.11:c.2380+61C= ENSP00000005226.7:n.2380+61C=
ENST00000318024.8:c.1480+61C= ENSP00000317018.4:n.1480+61C=
ENST00000526313.5:c.*194+61C= ENSP00000432236.1:n.*194+61C=
ENST00000527020.5:c.1423+61C= ENSP00000436934.1:n.1423+61C=
ENST00000527720.5:c.1387+61C= ENSP00000432944.1:n.1387+61C=
ENST00000529563.5:n.364+61C=
NM_001297764.1:c.1423+61C= NP_001284693.1:n.1423+61C=
NM_005709.3:c.1480+61C= NP_005700.2:n.1480+61C=
NM_153676.3:c.2380+61C= NP_710142.1:n.2380+61C=
NR_123738.1:n.1515+61C=
XM_011519831.1:c.2404+61C= XP_011518133.1:n.2404+61C=
XM_011519832.1:c.1633+61C= XP_011518134.1:n.1633+61C=
XM_011519832.3:c.1633+61C= XP_011518134.1:n.1633+61C=
XM_017017075.1:c.2380+61C= XP_016872564.1:n.2380+61C=
XR_001747717.2:n.1639+61C=
NM_153676.4:c.2380+61C= MANE Select NP_710142.1:n.2380+61C=
NM_001297764.2:c.1423+61C= NP_001284693.1:n.1423+61C=
NM_005709.4:c.1480+61C= MANE Plus Clinical NP_005700.2:n.1480+61C=
NR_123738.2:n.1515+61C=