Canonical Allele Identifier: CA502036457
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 1940994
ClinVar RCV Id: RCV002658644
dbSNP Id: rs1197329364

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920065G>A , CM000679.2:g.74920065G>A GRCh38
NC_000017.10:g.72916160G>A , CM000679.1:g.72916160G>A GRCh37
NC_000017.9:g.70427755G>A NCBI36
NG_007882.1:g.8192C>T
NG_033062.1:g.791G>A
NG_007882.2:g.8199C>T
NG_033062.2:g.791G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.771C>T MANE Select ENSP00000480279.1:p.Arg257=
ENST00000579243.1:c.*370C>T ENSP00000462568.1:n.*370C>T
ENST00000614341.4:c.771C>T ENSP00000480279.1:p.Arg257=
NM_001282489.2:c.462C>T NP_001269418.1:p.Arg154=
NM_173477.4:c.771C>T NP_775748.2:p.Arg257=
XM_011524296.1:c.462C>T XP_011522598.1:p.Arg154=
XM_011524296.2:c.462C>T XP_011522598.1:p.Arg154=
NM_173477.5:c.771C>T MANE Select NP_775748.2:p.Arg257=
NM_001282489.3:c.462C>T NP_001269418.1:p.Arg154=