Canonical Allele Identifier: CA2275255404
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920043T= , CM000679.2:g.74920043T= GRCh38
NC_000017.10:g.72916138T= , CM000679.1:g.72916138T= GRCh37
NC_000017.9:g.70427733T= NCBI36
NG_007882.1:g.8214A=
NG_033062.1:g.769T=
NG_007882.2:g.8221A=
NG_033062.2:g.769T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.793A= MANE Select ENSP00000480279.1:p.Lys265=
ENST00000579243.1:c.*392A= ENSP00000462568.1:n.*392A=
ENST00000614341.4:c.793A= ENSP00000480279.1:p.Lys265=
NM_001282489.2:c.484A= NP_001269418.1:p.Lys162=
NM_173477.4:c.793A= NP_775748.2:p.Lys265=
XM_011524296.1:c.484A= XP_011522598.1:p.Lys162=
XM_011524296.2:c.484A= XP_011522598.1:p.Lys162=
NM_173477.5:c.793A= MANE Select NP_775748.2:p.Lys265=
NM_001282489.3:c.484A= NP_001269418.1:p.Lys162=