Canonical Allele Identifier: CA2275255483

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920185C= , CM000679.2:g.74920185C=	GRCh38
NC_000017.10:g.72916280C= , CM000679.1:g.72916280C=	GRCh37
NC_000017.9:g.70427875C=	NCBI36
NG_007882.1:g.8072G=
NG_033062.1:g.911C=
NG_007882.2:g.8079G=
NG_033062.2:g.911C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.651G= MANE Select	ENSP00000480279.1:p.Gln217=
ENST00000579243.1:c.*250G=	ENSP00000462568.1:n.*250G=
ENST00000614341.4:c.651G=	ENSP00000480279.1:p.Gln217=
NM_001282489.2:c.342G=	NP_001269418.1:p.Gln114=
NM_173477.4:c.651G=	NP_775748.2:p.Gln217=
XM_011524296.1:c.342G=	XP_011522598.1:p.Gln114=
XM_011524296.2:c.342G=	XP_011522598.1:p.Gln114=
NM_173477.5:c.651G= MANE Select	NP_775748.2:p.Gln217=
NM_001282489.3:c.342G=	NP_001269418.1:p.Gln114=