Canonical Allele Identifier: CA2275255160

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919590C= , CM000679.2:g.74919590C=	GRCh38
NC_000017.10:g.72915685C= , CM000679.1:g.72915685C=	GRCh37
NC_000017.9:g.70427280C=	NCBI36
NG_007882.1:g.8667G=
NG_033062.1:g.316C=
NG_007882.2:g.8674G=
NG_033062.2:g.316C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1246G= MANE Select	ENSP00000480279.1:p.Glu416=
ENST00000579243.1:c.*845G=	ENSP00000462568.1:n.*845G=
ENST00000614341.4:c.1246G=	ENSP00000480279.1:p.Glu416=
NM_001282489.2:c.937G=	NP_001269418.1:p.Glu313=
NM_173477.4:c.1246G=	NP_775748.2:p.Glu416=
XM_011524296.1:c.937G=	XP_011522598.1:p.Glu313=
XM_011524296.2:c.937G=	XP_011522598.1:p.Glu313=
NM_173477.5:c.1246G= MANE Select	NP_775748.2:p.Glu416=
NM_001282489.3:c.937G=	NP_001269418.1:p.Glu313=