Canonical Allele Identifier: CA2275255211

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919688T= , CM000679.2:g.74919688T=	GRCh38
NC_000017.10:g.72915783T= , CM000679.1:g.72915783T=	GRCh37
NC_000017.9:g.70427378T=	NCBI36
NG_007882.1:g.8569A=
NG_033062.1:g.414T=
NG_007882.2:g.8576A=
NG_033062.2:g.414T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1148A= MANE Select	ENSP00000480279.1:p.Glu383=
ENST00000579243.1:c.*747A=	ENSP00000462568.1:n.*747A=
ENST00000614341.4:c.1148A=	ENSP00000480279.1:p.Glu383=
NM_001282489.2:c.839A=	NP_001269418.1:p.Glu280=
NM_173477.4:c.1148A=	NP_775748.2:p.Glu383=
XM_011524296.1:c.839A=	XP_011522598.1:p.Glu280=
XM_011524296.2:c.839A=	XP_011522598.1:p.Glu280=
NM_173477.5:c.1148A= MANE Select	NP_775748.2:p.Glu383=
NM_001282489.3:c.839A=	NP_001269418.1:p.Glu280=