Canonical Allele Identifier: CA2275255230
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919725C= , CM000679.2:g.74919725C= GRCh38
NC_000017.10:g.72915820C= , CM000679.1:g.72915820C= GRCh37
NC_000017.9:g.70427415C= NCBI36
NG_007882.1:g.8532G=
NG_033062.1:g.451C=
NG_007882.2:g.8539G=
NG_033062.2:g.451C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1111G= MANE Select ENSP00000480279.1:p.Glu371=
ENST00000579243.1:c.*710G= ENSP00000462568.1:n.*710G=
ENST00000614341.4:c.1111G= ENSP00000480279.1:p.Glu371=
NM_001282489.2:c.802G= NP_001269418.1:p.Glu268=
NM_173477.4:c.1111G= NP_775748.2:p.Glu371=
XM_011524296.1:c.802G= XP_011522598.1:p.Glu268=
XM_011524296.2:c.802G= XP_011522598.1:p.Glu268=
NM_173477.5:c.1111G= MANE Select NP_775748.2:p.Glu371=
NM_001282489.3:c.802G= NP_001269418.1:p.Glu268=