Canonical Allele Identifier: CA2275255166

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919600C= , CM000679.2:g.74919600C=	GRCh38
NC_000017.10:g.72915695C= , CM000679.1:g.72915695C=	GRCh37
NC_000017.9:g.70427290C=	NCBI36
NG_007882.1:g.8657G=
NG_033062.1:g.326C=
NG_007882.2:g.8664G=
NG_033062.2:g.326C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1236G= MANE Select	ENSP00000480279.1:p.Lys412=
ENST00000579243.1:c.*835G=	ENSP00000462568.1:n.*835G=
ENST00000614341.4:c.1236G=	ENSP00000480279.1:p.Lys412=
NM_001282489.2:c.927G=	NP_001269418.1:p.Lys309=
NM_173477.4:c.1236G=	NP_775748.2:p.Lys412=
XM_011524296.1:c.927G=	XP_011522598.1:p.Lys309=
XM_011524296.2:c.927G=	XP_011522598.1:p.Lys309=
NM_173477.5:c.1236G= MANE Select	NP_775748.2:p.Lys412=
NM_001282489.3:c.927G=	NP_001269418.1:p.Lys309=