Canonical Allele Identifier: CA2275255491

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920207G= , CM000679.2:g.74920207G=	GRCh38
NC_000017.10:g.72916302G= , CM000679.1:g.72916302G=	GRCh37
NC_000017.9:g.70427897G=	NCBI36
NG_007882.1:g.8050C=
NG_033062.1:g.933G=
NG_007882.2:g.8057C=
NG_033062.2:g.933G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.629C= MANE Select	ENSP00000480279.1:p.Ala210=
ENST00000579243.1:c.*228C=	ENSP00000462568.1:n.*228C=
ENST00000614341.4:c.629C=	ENSP00000480279.1:p.Ala210=
NM_001282489.2:c.320C=	NP_001269418.1:p.Ala107=
NM_173477.4:c.629C=	NP_775748.2:p.Ala210=
XM_011524296.1:c.320C=	XP_011522598.1:p.Ala107=
XM_011524296.2:c.320C=	XP_011522598.1:p.Ala107=
NM_173477.5:c.629C= MANE Select	NP_775748.2:p.Ala210=
NM_001282489.3:c.320C=	NP_001269418.1:p.Ala107=