Canonical Allele Identifier: CA2275255373
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919989C= , CM000679.2:g.74919989C= GRCh38
NC_000017.10:g.72916084C= , CM000679.1:g.72916084C= GRCh37
NC_000017.9:g.70427679C= NCBI36
NG_007882.1:g.8268G=
NG_033062.1:g.715C=
NG_007882.2:g.8275G=
NG_033062.2:g.715C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.847G= MANE Select ENSP00000480279.1:p.Val283=
ENST00000579243.1:c.*446G= ENSP00000462568.1:n.*446G=
ENST00000614341.4:c.847G= ENSP00000480279.1:p.Val283=
NM_001282489.2:c.538G= NP_001269418.1:p.Val180=
NM_173477.4:c.847G= NP_775748.2:p.Val283=
XM_011524296.1:c.538G= XP_011522598.1:p.Val180=
XM_011524296.2:c.538G= XP_011522598.1:p.Val180=
NM_173477.5:c.847G= MANE Select NP_775748.2:p.Val283=
NM_001282489.3:c.538G= NP_001269418.1:p.Val180=