Canonical Allele Identifier: CA2275255391
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920019G= , CM000679.2:g.74920019G= GRCh38
NC_000017.10:g.72916114G= , CM000679.1:g.72916114G= GRCh37
NC_000017.9:g.70427709G= NCBI36
NG_007882.1:g.8238C=
NG_033062.1:g.745G=
NG_007882.2:g.8245C=
NG_033062.2:g.745G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.817C= MANE Select ENSP00000480279.1:p.Arg273=
ENST00000579243.1:c.*416C= ENSP00000462568.1:n.*416C=
ENST00000614341.4:c.817C= ENSP00000480279.1:p.Arg273=
NM_001282489.2:c.508C= NP_001269418.1:p.Arg170=
NM_173477.4:c.817C= NP_775748.2:p.Arg273=
XM_011524296.1:c.508C= XP_011522598.1:p.Arg170=
XM_011524296.2:c.508C= XP_011522598.1:p.Arg170=
NM_173477.5:c.817C= MANE Select NP_775748.2:p.Arg273=
NM_001282489.3:c.508C= NP_001269418.1:p.Arg170=