Canonical Allele Identifier: CA8754034
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 1634442
ClinVar RCV Id: RCV002142858
dbSNP Id: rs754390030
ExAC: 17:72916304 C / T
gnomAD v2: 17-72916304-C-T
gnomAD v3: 17-74920209-C-T
gnomAD v4: 17-74920209-C-T
MyVariant Identifiers: chr17:g.72916304C>T (hg19) chr17:g.74920209C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920209C>T , CM000679.2:g.74920209C>T GRCh38
NC_000017.10:g.72916304C>T , CM000679.1:g.72916304C>T GRCh37
NC_000017.9:g.70427899C>T NCBI36
NG_007882.1:g.8048G>A
NG_033062.1:g.935C>T
NG_007882.2:g.8055G>A
NG_033062.2:g.935C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.627G>A MANE Select ENSP00000480279.1:p.Thr209=
ENST00000579243.1:c.*226G>A ENSP00000462568.1:n.*226G>A
ENST00000614341.4:c.627G>A ENSP00000480279.1:p.Thr209=
NM_001282489.2:c.318G>A NP_001269418.1:p.Thr106=
NM_173477.4:c.627G>A NP_775748.2:p.Thr209=
XM_011524296.1:c.318G>A XP_011522598.1:p.Thr106=
XM_011524296.2:c.318G>A XP_011522598.1:p.Thr106=
NM_173477.5:c.627G>A MANE Select NP_775748.2:p.Thr209=
NM_001282489.3:c.318G>A NP_001269418.1:p.Thr106=
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