Canonical Allele Identifier: CA2275255087

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919468C= , CM000679.2:g.74919468C=	GRCh38
NC_000017.10:g.72915563C= , CM000679.1:g.72915563C=	GRCh37
NC_000017.9:g.70427158C=	NCBI36
NG_007882.1:g.8789G=
NG_033062.1:g.194C=
NG_007882.2:g.8796G=
NG_033062.2:g.194C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.1368G= MANE Select	ENSP00000480279.1:p.Leu456=
ENST00000579243.1:c.*967G=	ENSP00000462568.1:n.*967G=
ENST00000614341.4:c.1368G=	ENSP00000480279.1:p.Leu456=
NM_001282489.2:c.1059G=	NP_001269418.1:p.Leu353=
NM_173477.4:c.1368G=	NP_775748.2:p.Leu456=
XM_011524296.1:c.1059G=	XP_011522598.1:p.Leu353=
XM_011524296.2:c.1059G=	XP_011522598.1:p.Leu353=
NM_173477.5:c.1368G= MANE Select	NP_775748.2:p.Leu456=
NM_001282489.3:c.1059G=	NP_001269418.1:p.Leu353=