Canonical Allele Identifier: CA2275255261

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919784C= , CM000679.2:g.74919784C=	GRCh38
NC_000017.10:g.72915879C= , CM000679.1:g.72915879C=	GRCh37
NC_000017.9:g.70427474C=	NCBI36
NG_007882.1:g.8473G=
NG_033062.1:g.510C=
NG_007882.2:g.8480G=
NG_033062.2:g.510C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1052G= MANE Select	ENSP00000480279.1:p.Ser351=
ENST00000579243.1:c.*651G=	ENSP00000462568.1:n.*651G=
ENST00000614341.4:c.1052G=	ENSP00000480279.1:p.Ser351=
NM_001282489.2:c.743G=	NP_001269418.1:p.Ser248=
NM_173477.4:c.1052G=	NP_775748.2:p.Ser351=
XM_011524296.1:c.743G=	XP_011522598.1:p.Ser248=
XM_011524296.2:c.743G=	XP_011522598.1:p.Ser248=
NM_173477.5:c.1052G= MANE Select	NP_775748.2:p.Ser351=
NM_001282489.3:c.743G=	NP_001269418.1:p.Ser248=