Canonical Allele Identifier: CA2275255141
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919551T= , CM000679.2:g.74919551T= GRCh38
NC_000017.10:g.72915646T= , CM000679.1:g.72915646T= GRCh37
NC_000017.9:g.70427241T= NCBI36
NG_007882.1:g.8706A=
NG_033062.1:g.277T=
NG_007882.2:g.8713A=
NG_033062.2:g.277T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1285A= MANE Select ENSP00000480279.1:p.Ile429=
ENST00000579243.1:c.*884A= ENSP00000462568.1:n.*884A=
ENST00000614341.4:c.1285A= ENSP00000480279.1:p.Ile429=
NM_001282489.2:c.976A= NP_001269418.1:p.Ile326=
NM_173477.4:c.1285A= NP_775748.2:p.Ile429=
XM_011524296.1:c.976A= XP_011522598.1:p.Ile326=
XM_011524296.2:c.976A= XP_011522598.1:p.Ile326=
NM_173477.5:c.1285A= MANE Select NP_775748.2:p.Ile429=
NM_001282489.3:c.976A= NP_001269418.1:p.Ile326=