Canonical Allele Identifier: CA2275255263

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919787G= , CM000679.2:g.74919787G=	GRCh38
NC_000017.10:g.72915882G= , CM000679.1:g.72915882G=	GRCh37
NC_000017.9:g.70427477G=	NCBI36
NG_007882.1:g.8470C=
NG_033062.1:g.513G=
NG_007882.2:g.8477C=
NG_033062.2:g.513G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1049C= MANE Select	ENSP00000480279.1:p.Pro350=
ENST00000579243.1:c.*648C=	ENSP00000462568.1:n.*648C=
ENST00000614341.4:c.1049C=	ENSP00000480279.1:p.Pro350=
NM_001282489.2:c.740C=	NP_001269418.1:p.Pro247=
NM_173477.4:c.1049C=	NP_775748.2:p.Pro350=
XM_011524296.1:c.740C=	XP_011522598.1:p.Pro247=
XM_011524296.2:c.740C=	XP_011522598.1:p.Pro247=
NM_173477.5:c.1049C= MANE Select	NP_775748.2:p.Pro350=
NM_001282489.3:c.740C=	NP_001269418.1:p.Pro247=