Canonical Allele Identifier: CA2275255163

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919596C= , CM000679.2:g.74919596C=	GRCh38
NC_000017.10:g.72915691C= , CM000679.1:g.72915691C=	GRCh37
NC_000017.9:g.70427286C=	NCBI36
NG_007882.1:g.8661G=
NG_033062.1:g.322C=
NG_007882.2:g.8668G=
NG_033062.2:g.322C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1240G= MANE Select	ENSP00000480279.1:p.Asp414=
ENST00000579243.1:c.*839G=	ENSP00000462568.1:n.*839G=
ENST00000614341.4:c.1240G=	ENSP00000480279.1:p.Asp414=
NM_001282489.2:c.931G=	NP_001269418.1:p.Asp311=
NM_173477.4:c.1240G=	NP_775748.2:p.Asp414=
XM_011524296.1:c.931G=	XP_011522598.1:p.Asp311=
XM_011524296.2:c.931G=	XP_011522598.1:p.Asp311=
NM_173477.5:c.1240G= MANE Select	NP_775748.2:p.Asp414=
NM_001282489.3:c.931G=	NP_001269418.1:p.Asp311=