Canonical Allele Identifier: CA1955173221

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501090C= , CM000673.2:g.17501090C=	GRCh38
NC_000011.9:g.17522637C= , CM000673.1:g.17522637C=	GRCh37
NC_000011.8:g.17479213C=	NCBI36
NG_011883.1:g.48327G=
NG_011883.2:g.48327G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2341G= MANE Select	ENSP00000005226.7:p.Val781=
ENST00000318024.9:c.1441G= MANE Plus Clinical	ENSP00000317018.4:p.Val481=
ENST00000005226.11:c.2341G=	ENSP00000005226.7:p.Val781=
ENST00000318024.8:c.1441G=	ENSP00000317018.4:p.Val481=
ENST00000526313.5:c.*155G=	ENSP00000432236.1:n.*155G=
ENST00000527020.5:c.1384G=	ENSP00000436934.1:p.Val462=
ENST00000527720.5:c.1348G=	ENSP00000432944.1:p.Val450=
ENST00000529563.5:n.325G=
ENST00000534556.1:n.226G=
NM_001297764.1:c.1384G=	NP_001284693.1:p.Val462=
NM_005709.3:c.1441G=	NP_005700.2:p.Val481=
NM_153676.3:c.2341G=	NP_710142.1:p.Val781=
NR_123738.1:n.1476G=
XM_011519831.1:c.2365G=	XP_011518133.1:p.Val789=
XM_011519832.1:c.1594G=	XP_011518134.1:p.Val532=
XM_011519833.1:c.*48G=	XP_011518135.1:n.*48G=
XR_930841.1:n.1812G=
XR_930842.1:n.1753G=
XM_011519832.3:c.1594G=	XP_011518134.1:p.Val532=
XM_017017075.1:c.2341G=	XP_016872564.1:p.Val781=
XR_001747717.2:n.1600G=
NM_153676.4:c.2341G= MANE Select	NP_710142.1:p.Val781=
NM_001297764.2:c.1384G=	NP_001284693.1:p.Val462=
NM_005709.4:c.1441G= MANE Plus Clinical	NP_005700.2:p.Val481=
NR_123738.2:n.1476G=