Canonical Allele Identifier: CA2275255168
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919604T= , CM000679.2:g.74919604T= GRCh38
NC_000017.10:g.72915699T= , CM000679.1:g.72915699T= GRCh37
NC_000017.9:g.70427294T= NCBI36
NG_007882.1:g.8653A=
NG_033062.1:g.330T=
NG_007882.2:g.8660A=
NG_033062.2:g.330T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1232A= MANE Select ENSP00000480279.1:p.Glu411=
ENST00000579243.1:c.*831A= ENSP00000462568.1:n.*831A=
ENST00000614341.4:c.1232A= ENSP00000480279.1:p.Glu411=
NM_001282489.2:c.923A= NP_001269418.1:p.Glu308=
NM_173477.4:c.1232A= NP_775748.2:p.Glu411=
XM_011524296.1:c.923A= XP_011522598.1:p.Glu308=
XM_011524296.2:c.923A= XP_011522598.1:p.Glu308=
NM_173477.5:c.1232A= MANE Select NP_775748.2:p.Glu411=
NM_001282489.3:c.923A= NP_001269418.1:p.Glu308=