Canonical Allele Identifier: CA2275255271
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919805C= , CM000679.2:g.74919805C= GRCh38
NC_000017.10:g.72915900C= , CM000679.1:g.72915900C= GRCh37
NC_000017.9:g.70427495C= NCBI36
NG_007882.1:g.8452G=
NG_033062.1:g.531C=
NG_007882.2:g.8459G=
NG_033062.2:g.531C=

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.1031G= MANE Select ENSP00000480279.1:p.Gly344=
ENST00000579243.1:c.*630G= ENSP00000462568.1:n.*630G=
ENST00000614341.4:c.1031G= ENSP00000480279.1:p.Gly344=
NM_001282489.2:c.722G= NP_001269418.1:p.Gly241=
NM_173477.4:c.1031G= NP_775748.2:p.Gly344=
XM_011524296.1:c.722G= XP_011522598.1:p.Gly241=
XM_011524296.2:c.722G= XP_011522598.1:p.Gly241=
NM_173477.5:c.1031G= MANE Select NP_775748.2:p.Gly344=
NM_001282489.3:c.722G= NP_001269418.1:p.Gly241=