Canonical Allele Identifier: CA2275255450
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920123C= , CM000679.2:g.74920123C= GRCh38
NC_000017.10:g.72916218C= , CM000679.1:g.72916218C= GRCh37
NC_000017.9:g.70427813C= NCBI36
NG_007882.1:g.8134G=
NG_033062.1:g.849C=
NG_007882.2:g.8141G=
NG_033062.2:g.849C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.713G= MANE Select ENSP00000480279.1:p.Arg238=
ENST00000579243.1:c.*312G= ENSP00000462568.1:n.*312G=
ENST00000614341.4:c.713G= ENSP00000480279.1:p.Arg238=
NM_001282489.2:c.404G= NP_001269418.1:p.Arg135=
NM_173477.4:c.713G= NP_775748.2:p.Arg238=
XM_011524296.1:c.404G= XP_011522598.1:p.Arg135=
XM_011524296.2:c.404G= XP_011522598.1:p.Arg135=
NM_173477.5:c.713G= MANE Select NP_775748.2:p.Arg238=
NM_001282489.3:c.404G= NP_001269418.1:p.Arg135=