Canonical Allele Identifier: CA1955173207

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501066C= , CM000673.2:g.17501066C=	GRCh38
NC_000011.9:g.17522613C= , CM000673.1:g.17522613C=	GRCh37
NC_000011.8:g.17479189C=	NCBI36
NG_011883.1:g.48351G=
NG_011883.2:g.48351G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2365G= MANE Select	ENSP00000005226.7:p.Ala789=
ENST00000318024.9:c.1465G= MANE Plus Clinical	ENSP00000317018.4:p.Ala489=
ENST00000005226.11:c.2365G=	ENSP00000005226.7:p.Ala789=
ENST00000318024.8:c.1465G=	ENSP00000317018.4:p.Ala489=
ENST00000526313.5:c.*179G=	ENSP00000432236.1:n.*179G=
ENST00000527020.5:c.1408G=	ENSP00000436934.1:p.Ala470=
ENST00000527720.5:c.1372G=	ENSP00000432944.1:p.Ala458=
ENST00000529563.5:n.349G=
NM_001297764.1:c.1408G=	NP_001284693.1:p.Ala470=
NM_005709.3:c.1465G=	NP_005700.2:p.Ala489=
NM_153676.3:c.2365G=	NP_710142.1:p.Ala789=
NR_123738.1:n.1500G=
XM_011519831.1:c.2389G=	XP_011518133.1:p.Ala797=
XM_011519832.1:c.1618G=	XP_011518134.1:p.Ala540=
XM_011519833.1:c.*72G=	XP_011518135.1:n.*72G=
XR_930841.1:n.1836G=
XR_930842.1:n.1777G=
XM_011519832.3:c.1618G=	XP_011518134.1:p.Ala540=
XM_017017075.1:c.2365G=	XP_016872564.1:p.Ala789=
XR_001747717.2:n.1624G=
NM_153676.4:c.2365G= MANE Select	NP_710142.1:p.Ala789=
NM_001297764.2:c.1408G=	NP_001284693.1:p.Ala470=
NM_005709.4:c.1465G= MANE Plus Clinical	NP_005700.2:p.Ala489=
NR_123738.2:n.1500G=