Canonical Allele Identifier: CA1955173454

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501509C= , CM000673.2:g.17501509C=	GRCh38
NC_000011.9:g.17523056C= , CM000673.1:g.17523056C=	GRCh37
NC_000011.8:g.17479632C=	NCBI36
NG_011883.1:g.47908G=
NG_011883.2:g.47908G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2253G= MANE Select	ENSP00000005226.7:p.Lys751=
ENST00000318024.9:c.1353G= MANE Plus Clinical	ENSP00000317018.4:p.Lys451=
ENST00000005226.11:c.2253G=	ENSP00000005226.7:p.Lys751=
ENST00000318024.8:c.1353G=	ENSP00000317018.4:p.Lys451=
ENST00000526313.5:c.*67G=	ENSP00000432236.1:n.*67G=
ENST00000527020.5:c.1296G=	ENSP00000436934.1:p.Lys432=
ENST00000527720.5:c.1260G=	ENSP00000432944.1:p.Lys420=
ENST00000529563.5:n.237G=
ENST00000534556.1:n.138G=
NM_001297764.1:c.1296G=	NP_001284693.1:p.Lys432=
NM_005709.3:c.1353G=	NP_005700.2:p.Lys451=
NM_153676.3:c.2253G=	NP_710142.1:p.Lys751=
NR_123738.1:n.1388G=
XM_011519831.1:c.2277G=	XP_011518133.1:p.Lys759=
XM_011519832.1:c.1506G=	XP_011518134.1:p.Lys502=
XM_011519833.1:c.1403G=	XP_011518135.1:p.Arg468=
XR_930841.1:n.1724G=
XR_930842.1:n.1665G=
XM_011519832.3:c.1506G=	XP_011518134.1:p.Lys502=
XM_017017075.1:c.2253G=	XP_016872564.1:p.Lys751=
XR_001747717.2:n.1512G=
NM_153676.4:c.2253G= MANE Select	NP_710142.1:p.Lys751=
NM_001297764.2:c.1296G=	NP_001284693.1:p.Lys432=
NM_005709.4:c.1353G= MANE Plus Clinical	NP_005700.2:p.Lys451=
NR_123738.2:n.1388G=