Canonical Allele Identifier: CA1955173201

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501054G= , CM000673.2:g.17501054G=	GRCh38
NC_000011.9:g.17522601G= , CM000673.1:g.17522601G=	GRCh37
NC_000011.8:g.17479177G=	NCBI36
NG_011883.1:g.48363C=
NG_011883.2:g.48363C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2377C= MANE Select	ENSP00000005226.7:p.His793=
ENST00000318024.9:c.1477C= MANE Plus Clinical	ENSP00000317018.4:p.His493=
ENST00000005226.11:c.2377C=	ENSP00000005226.7:p.His793=
ENST00000318024.8:c.1477C=	ENSP00000317018.4:p.His493=
ENST00000526313.5:c.*191C=	ENSP00000432236.1:n.*191C=
ENST00000527020.5:c.1420C=	ENSP00000436934.1:p.His474=
ENST00000527720.5:c.1384C=	ENSP00000432944.1:p.His462=
ENST00000529563.5:n.361C=
NM_001297764.1:c.1420C=	NP_001284693.1:p.His474=
NM_005709.3:c.1477C=	NP_005700.2:p.His493=
NM_153676.3:c.2377C=	NP_710142.1:p.His793=
NR_123738.1:n.1512C=
XM_011519831.1:c.2401C=	XP_011518133.1:p.His801=
XM_011519832.1:c.1630C=	XP_011518134.1:p.His544=
XM_011519833.1:c.*84C=	XP_011518135.1:n.*84C=
XR_930841.1:n.1848C=
XR_930842.1:n.1789C=
XM_011519832.3:c.1630C=	XP_011518134.1:p.His544=
XM_017017075.1:c.2377C=	XP_016872564.1:p.His793=
XR_001747717.2:n.1636C=
NM_153676.4:c.2377C= MANE Select	NP_710142.1:p.His793=
NM_001297764.2:c.1420C=	NP_001284693.1:p.His474=
NM_005709.4:c.1477C= MANE Plus Clinical	NP_005700.2:p.His493=
NR_123738.2:n.1512C=