Canonical Allele Identifier: CA2275255156

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919577A= , CM000679.2:g.74919577A=	GRCh38
NC_000017.10:g.72915672A= , CM000679.1:g.72915672A=	GRCh37
NC_000017.9:g.70427267A=	NCBI36
NG_007882.1:g.8680T=
NG_033062.1:g.303A=
NG_007882.2:g.8687T=
NG_033062.2:g.303A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1259T= MANE Select	ENSP00000480279.1:p.Leu420=
ENST00000579243.1:c.*858T=	ENSP00000462568.1:n.*858T=
ENST00000614341.4:c.1259T=	ENSP00000480279.1:p.Leu420=
NM_001282489.2:c.950T=	NP_001269418.1:p.Leu317=
NM_173477.4:c.1259T=	NP_775748.2:p.Leu420=
XM_011524296.1:c.950T=	XP_011522598.1:p.Leu317=
XM_011524296.2:c.950T=	XP_011522598.1:p.Leu317=
NM_173477.5:c.1259T= MANE Select	NP_775748.2:p.Leu420=
NM_001282489.3:c.950T=	NP_001269418.1:p.Leu317=