Canonical Allele Identifier: CA2275255467

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920152T= , CM000679.2:g.74920152T=	GRCh38
NC_000017.10:g.72916247T= , CM000679.1:g.72916247T=	GRCh37
NC_000017.9:g.70427842T=	NCBI36
NG_007882.1:g.8105A=
NG_033062.1:g.878T=
NG_007882.2:g.8112A=
NG_033062.2:g.878T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.684A= MANE Select	ENSP00000480279.1:p.Glu228=
ENST00000579243.1:c.*283A=	ENSP00000462568.1:n.*283A=
ENST00000614341.4:c.684A=	ENSP00000480279.1:p.Glu228=
NM_001282489.2:c.375A=	NP_001269418.1:p.Glu125=
NM_173477.4:c.684A=	NP_775748.2:p.Glu228=
XM_011524296.1:c.375A=	XP_011522598.1:p.Glu125=
XM_011524296.2:c.375A=	XP_011522598.1:p.Glu125=
NM_173477.5:c.684A= MANE Select	NP_775748.2:p.Glu228=
NM_001282489.3:c.375A=	NP_001269418.1:p.Glu125=