Canonical Allele Identifier: CA2275255219

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919699T= , CM000679.2:g.74919699T=	GRCh38
NC_000017.10:g.72915794T= , CM000679.1:g.72915794T=	GRCh37
NC_000017.9:g.70427389T=	NCBI36
NG_007882.1:g.8558A=
NG_033062.1:g.425T=
NG_007882.2:g.8565A=
NG_033062.2:g.425T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1137A= MANE Select	ENSP00000480279.1:p.Leu379=
ENST00000579243.1:c.*736A=	ENSP00000462568.1:n.*736A=
ENST00000614341.4:c.1137A=	ENSP00000480279.1:p.Leu379=
NM_001282489.2:c.828A=	NP_001269418.1:p.Leu276=
NM_173477.4:c.1137A=	NP_775748.2:p.Leu379=
XM_011524296.1:c.828A=	XP_011522598.1:p.Leu276=
XM_011524296.2:c.828A=	XP_011522598.1:p.Leu276=
NM_173477.5:c.1137A= MANE Select	NP_775748.2:p.Leu379=
NM_001282489.3:c.828A=	NP_001269418.1:p.Leu276=