Canonical Allele Identifier: CA2275255140

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919550A= , CM000679.2:g.74919550A=	GRCh38
NC_000017.10:g.72915645A= , CM000679.1:g.72915645A=	GRCh37
NC_000017.9:g.70427240A=	NCBI36
NG_007882.1:g.8707T=
NG_033062.1:g.276A=
NG_007882.2:g.8714T=
NG_033062.2:g.276A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1286T= MANE Select	ENSP00000480279.1:p.Ile429=
ENST00000579243.1:c.*885T=	ENSP00000462568.1:n.*885T=
ENST00000614341.4:c.1286T=	ENSP00000480279.1:p.Ile429=
NM_001282489.2:c.977T=	NP_001269418.1:p.Ile326=
NM_173477.4:c.1286T=	NP_775748.2:p.Ile429=
XM_011524296.1:c.977T=	XP_011522598.1:p.Ile326=
XM_011524296.2:c.977T=	XP_011522598.1:p.Ile326=
NM_173477.5:c.1286T= MANE Select	NP_775748.2:p.Ile429=
NM_001282489.3:c.977T=	NP_001269418.1:p.Ile326=