Canonical Allele Identifier: CA2275255466
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920149G= , CM000679.2:g.74920149G= GRCh38
NC_000017.10:g.72916244G= , CM000679.1:g.72916244G= GRCh37
NC_000017.9:g.70427839G= NCBI36
NG_007882.1:g.8108C=
NG_033062.1:g.875G=
NG_007882.2:g.8115C=
NG_033062.2:g.875G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.687C= MANE Select ENSP00000480279.1:p.Gly229=
ENST00000579243.1:c.*286C= ENSP00000462568.1:n.*286C=
ENST00000614341.4:c.687C= ENSP00000480279.1:p.Gly229=
NM_001282489.2:c.378C= NP_001269418.1:p.Gly126=
NM_173477.4:c.687C= NP_775748.2:p.Gly229=
XM_011524296.1:c.378C= XP_011522598.1:p.Gly126=
XM_011524296.2:c.378C= XP_011522598.1:p.Gly126=
NM_173477.5:c.687C= MANE Select NP_775748.2:p.Gly229=
NM_001282489.3:c.378C= NP_001269418.1:p.Gly126=