Canonical Allele Identifier: CA400962755
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 1349453
ClinVar RCV Id: RCV002051073
dbSNP Id: rs2144753475

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919952G>A , CM000679.2:g.74919952G>A GRCh38
NC_000017.10:g.72916047G>A , CM000679.1:g.72916047G>A GRCh37
NC_000017.9:g.70427642G>A NCBI36
NG_007882.1:g.8305C>T
NG_033062.1:g.678G>A
NG_007882.2:g.8312C>T
NG_033062.2:g.678G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.884C>T MANE Select ENSP00000480279.1:p.Ser295Leu
ENST00000579243.1:c.*483C>T ENSP00000462568.1:n.*483C>T
ENST00000614341.4:c.884C>T ENSP00000480279.1:p.Ser295Leu
NM_001282489.2:c.575C>T NP_001269418.1:p.Ser192Leu
NM_173477.4:c.884C>T NP_775748.2:p.Ser295Leu
XM_011524296.1:c.575C>T XP_011522598.1:p.Ser192Leu
XM_011524296.2:c.575C>T XP_011522598.1:p.Ser192Leu
NM_173477.5:c.884C>T MANE Select NP_775748.2:p.Ser295Leu
NM_001282489.3:c.575C>T NP_001269418.1:p.Ser192Leu