Canonical Allele Identifier: CA2275255398
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920031G= , CM000679.2:g.74920031G= GRCh38
NC_000017.10:g.72916126G= , CM000679.1:g.72916126G= GRCh37
NC_000017.9:g.70427721G= NCBI36
NG_007882.1:g.8226C=
NG_033062.1:g.757G=
NG_007882.2:g.8233C=
NG_033062.2:g.757G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.805C= MANE Select ENSP00000480279.1:p.Arg269=
ENST00000579243.1:c.*404C= ENSP00000462568.1:n.*404C=
ENST00000614341.4:c.805C= ENSP00000480279.1:p.Arg269=
NM_001282489.2:c.496C= NP_001269418.1:p.Arg166=
NM_173477.4:c.805C= NP_775748.2:p.Arg269=
XM_011524296.1:c.496C= XP_011522598.1:p.Arg166=
XM_011524296.2:c.496C= XP_011522598.1:p.Arg166=
NM_173477.5:c.805C= MANE Select NP_775748.2:p.Arg269=
NM_001282489.3:c.496C= NP_001269418.1:p.Arg166=