Canonical Allele Identifier: CA2275255198

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919662G= , CM000679.2:g.74919662G=	GRCh38
NC_000017.10:g.72915757G= , CM000679.1:g.72915757G=	GRCh37
NC_000017.9:g.70427352G=	NCBI36
NG_007882.1:g.8595C=
NG_033062.1:g.388G=
NG_007882.2:g.8602C=
NG_033062.2:g.388G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1174C= MANE Select	ENSP00000480279.1:p.Leu392=
ENST00000579243.1:c.*773C=	ENSP00000462568.1:n.*773C=
ENST00000614341.4:c.1174C=	ENSP00000480279.1:p.Leu392=
NM_001282489.2:c.865C=	NP_001269418.1:p.Leu289=
NM_173477.4:c.1174C=	NP_775748.2:p.Leu392=
XM_011524296.1:c.865C=	XP_011522598.1:p.Leu289=
XM_011524296.2:c.865C=	XP_011522598.1:p.Leu289=
NM_173477.5:c.1174C= MANE Select	NP_775748.2:p.Leu392=
NM_001282489.3:c.865C=	NP_001269418.1:p.Leu289=