Canonical Allele Identifier: CA2275255088
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919471G= , CM000679.2:g.74919471G= GRCh38
NC_000017.10:g.72915566G= , CM000679.1:g.72915566G= GRCh37
NC_000017.9:g.70427161G= NCBI36
NG_007882.1:g.8786C=
NG_033062.1:g.197G=
NG_007882.2:g.8793C=
NG_033062.2:g.197G=

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.1365C= MANE Select ENSP00000480279.1:p.Ala455=
ENST00000579243.1:c.*964C= ENSP00000462568.1:n.*964C=
ENST00000614341.4:c.1365C= ENSP00000480279.1:p.Ala455=
NM_001282489.2:c.1056C= NP_001269418.1:p.Ala352=
NM_173477.4:c.1365C= NP_775748.2:p.Ala455=
XM_011524296.1:c.1056C= XP_011522598.1:p.Ala352=
XM_011524296.2:c.1056C= XP_011522598.1:p.Ala352=
NM_173477.5:c.1365C= MANE Select NP_775748.2:p.Ala455=
NM_001282489.3:c.1056C= NP_001269418.1:p.Ala352=