Canonical Allele Identifier: CA400962975
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 1331139
ClinVar RCV Id: RCV001806484
dbSNP Id: rs1567939731

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.847G>A MANE Select ENSP00000480279.1:p.Val283Ile
ENST00000579243.1:c.*446G>A ENSP00000462568.1:n.*446G>A
ENST00000614341.4:c.847G>A ENSP00000480279.1:p.Val283Ile
NM_001282489.2:c.538G>A NP_001269418.1:p.Val180Ile
NM_173477.4:c.847G>A NP_775748.2:p.Val283Ile
XM_011524296.1:c.538G>A XP_011522598.1:p.Val180Ile
XM_011524296.2:c.538G>A XP_011522598.1:p.Val180Ile
NM_173477.5:c.847G>A MANE Select NP_775748.2:p.Val283Ile
NM_001282489.3:c.538G>A NP_001269418.1:p.Val180Ile