Canonical Allele Identifier: CA2275255481

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920181T= , CM000679.2:g.74920181T=	GRCh38
NC_000017.10:g.72916276T= , CM000679.1:g.72916276T=	GRCh37
NC_000017.9:g.70427871T=	NCBI36
NG_007882.1:g.8076A=
NG_033062.1:g.907T=
NG_007882.2:g.8083A=
NG_033062.2:g.907T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.655A= MANE Select	ENSP00000480279.1:p.Lys219=
ENST00000579243.1:c.*254A=	ENSP00000462568.1:n.*254A=
ENST00000614341.4:c.655A=	ENSP00000480279.1:p.Lys219=
NM_001282489.2:c.346A=	NP_001269418.1:p.Lys116=
NM_173477.4:c.655A=	NP_775748.2:p.Lys219=
XM_011524296.1:c.346A=	XP_011522598.1:p.Lys116=
XM_011524296.2:c.346A=	XP_011522598.1:p.Lys116=
NM_173477.5:c.655A= MANE Select	NP_775748.2:p.Lys219=
NM_001282489.3:c.346A=	NP_001269418.1:p.Lys116=