Canonical Allele Identifier: CA1955173224

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501093C= , CM000673.2:g.17501093C=	GRCh38
NC_000011.9:g.17522640C= , CM000673.1:g.17522640C=	GRCh37
NC_000011.8:g.17479216C=	NCBI36
NG_011883.1:g.48324G=
NG_011883.2:g.48324G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2338G= MANE Select	ENSP00000005226.7:p.Val780=
ENST00000318024.9:c.1438G= MANE Plus Clinical	ENSP00000317018.4:p.Val480=
ENST00000005226.11:c.2338G=	ENSP00000005226.7:p.Val780=
ENST00000318024.8:c.1438G=	ENSP00000317018.4:p.Val480=
ENST00000526313.5:c.*152G=	ENSP00000432236.1:n.*152G=
ENST00000527020.5:c.1381G=	ENSP00000436934.1:p.Val461=
ENST00000527720.5:c.1345G=	ENSP00000432944.1:p.Val449=
ENST00000529563.5:n.322G=
ENST00000534556.1:n.223G=
NM_001297764.1:c.1381G=	NP_001284693.1:p.Val461=
NM_005709.3:c.1438G=	NP_005700.2:p.Val480=
NM_153676.3:c.2338G=	NP_710142.1:p.Val780=
NR_123738.1:n.1473G=
XM_011519831.1:c.2362G=	XP_011518133.1:p.Val788=
XM_011519832.1:c.1591G=	XP_011518134.1:p.Val531=
XM_011519833.1:c.*45G=	XP_011518135.1:n.*45G=
XR_930841.1:n.1809G=
XR_930842.1:n.1750G=
XM_011519832.3:c.1591G=	XP_011518134.1:p.Val531=
XM_017017075.1:c.2338G=	XP_016872564.1:p.Val780=
XR_001747717.2:n.1597G=
NM_153676.4:c.2338G= MANE Select	NP_710142.1:p.Val780=
NM_001297764.2:c.1381G=	NP_001284693.1:p.Val461=
NM_005709.4:c.1438G= MANE Plus Clinical	NP_005700.2:p.Val480=
NR_123738.2:n.1473G=