Canonical Allele Identifier: CA2275255269
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919801C= , CM000679.2:g.74919801C= GRCh38
NC_000017.10:g.72915896C= , CM000679.1:g.72915896C= GRCh37
NC_000017.9:g.70427491C= NCBI36
NG_007882.1:g.8456G=
NG_033062.1:g.527C=
NG_007882.2:g.8463G=
NG_033062.2:g.527C=

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.1035G= MANE Select ENSP00000480279.1:p.Arg345=
ENST00000579243.1:c.*634G= ENSP00000462568.1:n.*634G=
ENST00000614341.4:c.1035G= ENSP00000480279.1:p.Arg345=
NM_001282489.2:c.726G= NP_001269418.1:p.Arg242=
NM_173477.4:c.1035G= NP_775748.2:p.Arg345=
XM_011524296.1:c.726G= XP_011522598.1:p.Arg242=
XM_011524296.2:c.726G= XP_011522598.1:p.Arg242=
NM_173477.5:c.1035G= MANE Select NP_775748.2:p.Arg345=
NM_001282489.3:c.726G= NP_001269418.1:p.Arg242=