Canonical Allele Identifier: CA1955173253

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501147C= , CM000673.2:g.17501147C=	GRCh38
NC_000011.9:g.17522694C= , CM000673.1:g.17522694C=	GRCh37
NC_000011.8:g.17479270C=	NCBI36
NG_011883.1:g.48270G=
NG_011883.2:g.48270G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2284G= MANE Select	ENSP00000005226.7:p.Gly762=
ENST00000318024.9:c.1384G= MANE Plus Clinical	ENSP00000317018.4:p.Gly462=
ENST00000005226.11:c.2284G=	ENSP00000005226.7:p.Gly762=
ENST00000318024.8:c.1384G=	ENSP00000317018.4:p.Gly462=
ENST00000526313.5:c.*98G=	ENSP00000432236.1:n.*98G=
ENST00000527020.5:c.1327G=	ENSP00000436934.1:p.Gly443=
ENST00000527720.5:c.1291G=	ENSP00000432944.1:p.Gly431=
ENST00000529563.5:n.268G=
ENST00000534556.1:n.169G=
NM_001297764.1:c.1327G=	NP_001284693.1:p.Gly443=
NM_005709.3:c.1384G=	NP_005700.2:p.Gly462=
NM_153676.3:c.2284G=	NP_710142.1:p.Gly762=
NR_123738.1:n.1419G=
XM_011519831.1:c.2308G=	XP_011518133.1:p.Gly770=
XM_011519832.1:c.1537G=	XP_011518134.1:p.Gly513=
XM_011519833.1:c.1434G=	XP_011518135.1:p.Arg478=
XR_930841.1:n.1755G=
XR_930842.1:n.1696G=
XM_011519832.3:c.1537G=	XP_011518134.1:p.Gly513=
XM_017017075.1:c.2284G=	XP_016872564.1:p.Gly762=
XR_001747717.2:n.1543G=
NM_153676.4:c.2284G= MANE Select	NP_710142.1:p.Gly762=
NM_001297764.2:c.1327G=	NP_001284693.1:p.Gly443=
NM_005709.4:c.1384G= MANE Plus Clinical	NP_005700.2:p.Gly462=
NR_123738.2:n.1419G=