Canonical Allele Identifier: CA2275255489
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920200G= , CM000679.2:g.74920200G= GRCh38
NC_000017.10:g.72916295G= , CM000679.1:g.72916295G= GRCh37
NC_000017.9:g.70427890G= NCBI36
NG_007882.1:g.8057C=
NG_033062.1:g.926G=
NG_007882.2:g.8064C=
NG_033062.2:g.926G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.636C= MANE Select ENSP00000480279.1:p.Gly212=
ENST00000579243.1:c.*235C= ENSP00000462568.1:n.*235C=
ENST00000614341.4:c.636C= ENSP00000480279.1:p.Gly212=
NM_001282489.2:c.327C= NP_001269418.1:p.Gly109=
NM_173477.4:c.636C= NP_775748.2:p.Gly212=
XM_011524296.1:c.327C= XP_011522598.1:p.Gly109=
XM_011524296.2:c.327C= XP_011522598.1:p.Gly109=
NM_173477.5:c.636C= MANE Select NP_775748.2:p.Gly212=
NM_001282489.3:c.327C= NP_001269418.1:p.Gly109=