Canonical Allele Identifier: CA293984150
Gene: USH1G HGNC NCBI

Linked Data

dbSNP Id: rs1012544137

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920051G>A , CM000679.2:g.74920051G>A GRCh38
NC_000017.10:g.72916146G>A , CM000679.1:g.72916146G>A GRCh37
NC_000017.9:g.70427741G>A NCBI36
NG_007882.1:g.8206C>T
NG_033062.1:g.777G>A
NG_007882.2:g.8213C>T
NG_033062.2:g.777G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.785C>T MANE Select ENSP00000480279.1:p.Ala262Val
ENST00000579243.1:c.*384C>T ENSP00000462568.1:n.*384C>T
ENST00000614341.4:c.785C>T ENSP00000480279.1:p.Ala262Val
NM_001282489.2:c.476C>T NP_001269418.1:p.Ala159Val
NM_173477.4:c.785C>T NP_775748.2:p.Ala262Val
XM_011524296.1:c.476C>T XP_011522598.1:p.Ala159Val
XM_011524296.2:c.476C>T XP_011522598.1:p.Ala159Val
NM_173477.5:c.785C>T MANE Select NP_775748.2:p.Ala262Val
NM_001282489.3:c.476C>T NP_001269418.1:p.Ala159Val