Canonical Allele Identifier: CA2275255157

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919578G= , CM000679.2:g.74919578G=	GRCh38
NC_000017.10:g.72915673G= , CM000679.1:g.72915673G=	GRCh37
NC_000017.9:g.70427268G=	NCBI36
NG_007882.1:g.8679C=
NG_033062.1:g.304G=
NG_007882.2:g.8686C=
NG_033062.2:g.304G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1258C= MANE Select	ENSP00000480279.1:p.Leu420=
ENST00000579243.1:c.*857C=	ENSP00000462568.1:n.*857C=
ENST00000614341.4:c.1258C=	ENSP00000480279.1:p.Leu420=
NM_001282489.2:c.949C=	NP_001269418.1:p.Leu317=
NM_173477.4:c.1258C=	NP_775748.2:p.Leu420=
XM_011524296.1:c.949C=	XP_011522598.1:p.Leu317=
XM_011524296.2:c.949C=	XP_011522598.1:p.Leu317=
NM_173477.5:c.1258C= MANE Select	NP_775748.2:p.Leu420=
NM_001282489.3:c.949C=	NP_001269418.1:p.Leu317=