Canonical Allele Identifier: CA2275255202
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919669A= , CM000679.2:g.74919669A= GRCh38
NC_000017.10:g.72915764A= , CM000679.1:g.72915764A= GRCh37
NC_000017.9:g.70427359A= NCBI36
NG_007882.1:g.8588T=
NG_033062.1:g.395A=
NG_007882.2:g.8595T=
NG_033062.2:g.395A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1167T= MANE Select ENSP00000480279.1:p.Thr389=
ENST00000579243.1:c.*766T= ENSP00000462568.1:n.*766T=
ENST00000614341.4:c.1167T= ENSP00000480279.1:p.Thr389=
NM_001282489.2:c.858T= NP_001269418.1:p.Thr286=
NM_173477.4:c.1167T= NP_775748.2:p.Thr389=
XM_011524296.1:c.858T= XP_011522598.1:p.Thr286=
XM_011524296.2:c.858T= XP_011522598.1:p.Thr286=
NM_173477.5:c.1167T= MANE Select NP_775748.2:p.Thr389=
NM_001282489.3:c.858T= NP_001269418.1:p.Thr286=