Canonical Allele Identifier: CA2275255484

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920186T= , CM000679.2:g.74920186T=	GRCh38
NC_000017.10:g.72916281T= , CM000679.1:g.72916281T=	GRCh37
NC_000017.9:g.70427876T=	NCBI36
NG_007882.1:g.8071A=
NG_033062.1:g.912T=
NG_007882.2:g.8078A=
NG_033062.2:g.912T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.650A= MANE Select	ENSP00000480279.1:p.Gln217=
ENST00000579243.1:c.*249A=	ENSP00000462568.1:n.*249A=
ENST00000614341.4:c.650A=	ENSP00000480279.1:p.Gln217=
NM_001282489.2:c.341A=	NP_001269418.1:p.Gln114=
NM_173477.4:c.650A=	NP_775748.2:p.Gln217=
XM_011524296.1:c.341A=	XP_011522598.1:p.Gln114=
XM_011524296.2:c.341A=	XP_011522598.1:p.Gln114=
NM_173477.5:c.650A= MANE Select	NP_775748.2:p.Gln217=
NM_001282489.3:c.341A=	NP_001269418.1:p.Gln114=