Canonical Allele Identifier: CA2275255164

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919597G= , CM000679.2:g.74919597G=	GRCh38
NC_000017.10:g.72915692G= , CM000679.1:g.72915692G=	GRCh37
NC_000017.9:g.70427287G=	NCBI36
NG_007882.1:g.8660C=
NG_033062.1:g.323G=
NG_007882.2:g.8667C=
NG_033062.2:g.323G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1239C= MANE Select	ENSP00000480279.1:p.Ile413=
ENST00000579243.1:c.*838C=	ENSP00000462568.1:n.*838C=
ENST00000614341.4:c.1239C=	ENSP00000480279.1:p.Ile413=
NM_001282489.2:c.930C=	NP_001269418.1:p.Ile310=
NM_173477.4:c.1239C=	NP_775748.2:p.Ile413=
XM_011524296.1:c.930C=	XP_011522598.1:p.Ile310=
XM_011524296.2:c.930C=	XP_011522598.1:p.Ile310=
NM_173477.5:c.1239C= MANE Select	NP_775748.2:p.Ile413=
NM_001282489.3:c.930C=	NP_001269418.1:p.Ile310=