Canonical Allele Identifier: CA2275255445

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920116G= , CM000679.2:g.74920116G=	GRCh38
NC_000017.10:g.72916211G= , CM000679.1:g.72916211G=	GRCh37
NC_000017.9:g.70427806G=	NCBI36
NG_007882.1:g.8141C=
NG_033062.1:g.842G=
NG_007882.2:g.8148C=
NG_033062.2:g.842G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.720C= MANE Select	ENSP00000480279.1:p.Ser240=
ENST00000579243.1:c.*319C=	ENSP00000462568.1:n.*319C=
ENST00000614341.4:c.720C=	ENSP00000480279.1:p.Ser240=
NM_001282489.2:c.411C=	NP_001269418.1:p.Ser137=
NM_173477.4:c.720C=	NP_775748.2:p.Ser240=
XM_011524296.1:c.411C=	XP_011522598.1:p.Ser137=
XM_011524296.2:c.411C=	XP_011522598.1:p.Ser137=
NM_173477.5:c.720C= MANE Select	NP_775748.2:p.Ser240=
NM_001282489.3:c.411C=	NP_001269418.1:p.Ser137=