Canonical Allele Identifier: CA2275255494
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920210G= , CM000679.2:g.74920210G= GRCh38
NC_000017.10:g.72916305G= , CM000679.1:g.72916305G= GRCh37
NC_000017.9:g.70427900G= NCBI36
NG_007882.1:g.8047C=
NG_033062.1:g.936G=
NG_007882.2:g.8054C=
NG_033062.2:g.936G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.626C= MANE Select ENSP00000480279.1:p.Thr209=
ENST00000579243.1:c.*225C= ENSP00000462568.1:n.*225C=
ENST00000614341.4:c.626C= ENSP00000480279.1:p.Thr209=
NM_001282489.2:c.317C= NP_001269418.1:p.Thr106=
NM_173477.4:c.626C= NP_775748.2:p.Thr209=
XM_011524296.1:c.317C= XP_011522598.1:p.Thr106=
XM_011524296.2:c.317C= XP_011522598.1:p.Thr106=
NM_173477.5:c.626C= MANE Select NP_775748.2:p.Thr209=
NM_001282489.3:c.317C= NP_001269418.1:p.Thr106=