Canonical Allele Identifier: CA2275255148
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919562T= , CM000679.2:g.74919562T= GRCh38
NC_000017.10:g.72915657T= , CM000679.1:g.72915657T= GRCh37
NC_000017.9:g.70427252T= NCBI36
NG_007882.1:g.8695A=
NG_033062.1:g.288T=
NG_007882.2:g.8702A=
NG_033062.2:g.288T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1274A= MANE Select ENSP00000480279.1:p.Asp425=
ENST00000579243.1:c.*873A= ENSP00000462568.1:n.*873A=
ENST00000614341.4:c.1274A= ENSP00000480279.1:p.Asp425=
NM_001282489.2:c.965A= NP_001269418.1:p.Asp322=
NM_173477.4:c.1274A= NP_775748.2:p.Asp425=
XM_011524296.1:c.965A= XP_011522598.1:p.Asp322=
XM_011524296.2:c.965A= XP_011522598.1:p.Asp322=
NM_173477.5:c.1274A= MANE Select NP_775748.2:p.Asp425=
NM_001282489.3:c.965A= NP_001269418.1:p.Asp322=