Canonical Allele Identifier: CA142662
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 48135
ClinVar RCV Id: RCV000041423 RCV001511149
dbSNP Id: rs201525855
ExAC: 17:72916253 G / T
gnomAD v2: 17-72916253-G-T
gnomAD v3: 17-74920158-G-T
gnomAD v4: 17-74920158-G-T
MyVariant Identifiers: chr17:g.72916253G>T (hg19) chr17:g.74920158G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920158G>T , CM000679.2:g.74920158G>T GRCh38
NC_000017.10:g.72916253G>T , CM000679.1:g.72916253G>T GRCh37
NC_000017.9:g.70427848G>T NCBI36
NG_007882.1:g.8099C>A
NG_033062.1:g.884G>T
NG_007882.2:g.8106C>A
NG_033062.2:g.884G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.678C>A MANE Select ENSP00000480279.1:p.Gly226=
ENST00000579243.1:c.*277C>A ENSP00000462568.1:n.*277C>A
ENST00000614341.4:c.678C>A ENSP00000480279.1:p.Gly226=
NM_001282489.2:c.369C>A NP_001269418.1:p.Gly123=
NM_173477.4:c.678C>A NP_775748.2:p.Gly226=
XM_011524296.1:c.369C>A XP_011522598.1:p.Gly123=
XM_011524296.2:c.369C>A XP_011522598.1:p.Gly123=
NM_173477.5:c.678C>A MANE Select NP_775748.2:p.Gly226=
NM_001282489.3:c.369C>A NP_001269418.1:p.Gly123=
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