Canonical Allele Identifier: CA1955173199

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501051C= , CM000673.2:g.17501051C=	GRCh38
NC_000011.9:g.17522598C= , CM000673.1:g.17522598C=	GRCh37
NC_000011.8:g.17479174C=	NCBI36
NG_011883.1:g.48366G=
NG_011883.2:g.48366G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2380G= MANE Select	ENSP00000005226.7:p.Gly794=
ENST00000318024.9:c.1480G= MANE Plus Clinical	ENSP00000317018.4:p.Gly494=
ENST00000005226.11:c.2380G=	ENSP00000005226.7:p.Gly794=
ENST00000318024.8:c.1480G=	ENSP00000317018.4:p.Gly494=
ENST00000526313.5:c.*194G=	ENSP00000432236.1:n.*194G=
ENST00000527020.5:c.1423G=	ENSP00000436934.1:p.Gly475=
ENST00000527720.5:c.1387G=	ENSP00000432944.1:p.Gly463=
ENST00000529563.5:n.364G=
NM_001297764.1:c.1423G=	NP_001284693.1:p.Gly475=
NM_005709.3:c.1480G=	NP_005700.2:p.Gly494=
NM_153676.3:c.2380G=	NP_710142.1:p.Gly794=
NR_123738.1:n.1515G=
XM_011519831.1:c.2404G=	XP_011518133.1:p.Gly802=
XM_011519832.1:c.1633G=	XP_011518134.1:p.Gly545=
XM_011519833.1:c.*87G=	XP_011518135.1:n.*87G=
XR_930841.1:n.1851G=
XR_930842.1:n.1792G=
XM_011519832.3:c.1633G=	XP_011518134.1:p.Gly545=
XM_017017075.1:c.2380G=	XP_016872564.1:p.Gly794=
XR_001747717.2:n.1639G=
NM_153676.4:c.2380G= MANE Select	NP_710142.1:p.Gly794=
NM_001297764.2:c.1423G=	NP_001284693.1:p.Gly475=
NM_005709.4:c.1480G= MANE Plus Clinical	NP_005700.2:p.Gly494=
NR_123738.2:n.1515G=