Canonical Allele Identifier: CA2275255406

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920046G= , CM000679.2:g.74920046G=	GRCh38
NC_000017.10:g.72916141G= , CM000679.1:g.72916141G=	GRCh37
NC_000017.9:g.70427736G=	NCBI36
NG_007882.1:g.8211C=
NG_033062.1:g.772G=
NG_007882.2:g.8218C=
NG_033062.2:g.772G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.790C= MANE Select	ENSP00000480279.1:p.Pro264=
ENST00000579243.1:c.*389C=	ENSP00000462568.1:n.*389C=
ENST00000614341.4:c.790C=	ENSP00000480279.1:p.Pro264=
NM_001282489.2:c.481C=	NP_001269418.1:p.Pro161=
NM_173477.4:c.790C=	NP_775748.2:p.Pro264=
XM_011524296.1:c.481C=	XP_011522598.1:p.Pro161=
XM_011524296.2:c.481C=	XP_011522598.1:p.Pro161=
NM_173477.5:c.790C= MANE Select	NP_775748.2:p.Pro264=
NM_001282489.3:c.481C=	NP_001269418.1:p.Pro161=