Canonical Allele Identifier: CA2275255186

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919634A= , CM000679.2:g.74919634A=	GRCh38
NC_000017.10:g.72915729A= , CM000679.1:g.72915729A=	GRCh37
NC_000017.9:g.70427324A=	NCBI36
NG_007882.1:g.8623T=
NG_033062.1:g.360A=
NG_007882.2:g.8630T=
NG_033062.2:g.360A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1202T= MANE Select	ENSP00000480279.1:p.Met401=
ENST00000579243.1:c.*801T=	ENSP00000462568.1:n.*801T=
ENST00000614341.4:c.1202T=	ENSP00000480279.1:p.Met401=
NM_001282489.2:c.893T=	NP_001269418.1:p.Met298=
NM_173477.4:c.1202T=	NP_775748.2:p.Met401=
XM_011524296.1:c.893T=	XP_011522598.1:p.Met298=
XM_011524296.2:c.893T=	XP_011522598.1:p.Met298=
NM_173477.5:c.1202T= MANE Select	NP_775748.2:p.Met401=
NM_001282489.3:c.893T=	NP_001269418.1:p.Met298=