Canonical Allele Identifier: CA1955173464

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501526C= , CM000673.2:g.17501526C=	GRCh38
NC_000011.9:g.17523073C= , CM000673.1:g.17523073C=	GRCh37
NC_000011.8:g.17479649C=	NCBI36
NG_011883.1:g.47891G=
NG_011883.2:g.47891G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2236G= MANE Select	ENSP00000005226.7:p.Glu746=
ENST00000318024.9:c.1336G= MANE Plus Clinical	ENSP00000317018.4:p.Glu446=
ENST00000005226.11:c.2236G=	ENSP00000005226.7:p.Glu746=
ENST00000318024.8:c.1336G=	ENSP00000317018.4:p.Glu446=
ENST00000526313.5:c.*50G=	ENSP00000432236.1:n.*50G=
ENST00000527020.5:c.1279G=	ENSP00000436934.1:p.Glu427=
ENST00000527720.5:c.1243G=	ENSP00000432944.1:p.Glu415=
ENST00000529563.5:n.220G=
ENST00000534556.1:n.121G=
NM_001297764.1:c.1279G=	NP_001284693.1:p.Glu427=
NM_005709.3:c.1336G=	NP_005700.2:p.Glu446=
NM_153676.3:c.2236G=	NP_710142.1:p.Glu746=
NR_123738.1:n.1371G=
XM_011519831.1:c.2260G=	XP_011518133.1:p.Glu754=
XM_011519832.1:c.1489G=	XP_011518134.1:p.Glu497=
XM_011519833.1:c.1386G=	XP_011518135.1:p.Gln462=
XR_930841.1:n.1707G=
XR_930842.1:n.1648G=
XM_011519832.3:c.1489G=	XP_011518134.1:p.Glu497=
XM_017017075.1:c.2236G=	XP_016872564.1:p.Glu746=
XR_001747717.2:n.1495G=
NM_153676.4:c.2236G= MANE Select	NP_710142.1:p.Glu746=
NM_001297764.2:c.1279G=	NP_001284693.1:p.Glu427=
NM_005709.4:c.1336G= MANE Plus Clinical	NP_005700.2:p.Glu446=
NR_123738.2:n.1371G=