Canonical Allele Identifier: CA2275255176

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919617G= , CM000679.2:g.74919617G=	GRCh38
NC_000017.10:g.72915712G= , CM000679.1:g.72915712G=	GRCh37
NC_000017.9:g.70427307G=	NCBI36
NG_007882.1:g.8640C=
NG_033062.1:g.343G=
NG_007882.2:g.8647C=
NG_033062.2:g.343G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1219C= MANE Select	ENSP00000480279.1:p.Leu407=
ENST00000579243.1:c.*818C=	ENSP00000462568.1:n.*818C=
ENST00000614341.4:c.1219C=	ENSP00000480279.1:p.Leu407=
NM_001282489.2:c.910C=	NP_001269418.1:p.Leu304=
NM_173477.4:c.1219C=	NP_775748.2:p.Leu407=
XM_011524296.1:c.910C=	XP_011522598.1:p.Leu304=
XM_011524296.2:c.910C=	XP_011522598.1:p.Leu304=
NM_173477.5:c.1219C= MANE Select	NP_775748.2:p.Leu407=
NM_001282489.3:c.910C=	NP_001269418.1:p.Leu304=