Canonical Allele Identifier: CA8754036
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 1009512
ClinVar RCV Id: RCV001307017
dbSNP Id: rs143458197
ExAC: 17:72916330 A / G
gnomAD v2: 17-72916330-A-G
gnomAD v3: 17-74920235-A-G
gnomAD v4: 17-74920235-A-G
MyVariant Identifiers: chr17:g.72916330A>G (hg19) chr17:g.74920235A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920235A>G , CM000679.2:g.74920235A>G GRCh38
NC_000017.10:g.72916330A>G , CM000679.1:g.72916330A>G GRCh37
NC_000017.9:g.70427925A>G NCBI36
NG_007882.1:g.8022T>C
NG_033062.1:g.961A>G
NG_007882.2:g.8029T>C
NG_033062.2:g.961A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.601T>C MANE Select ENSP00000480279.1:p.Tyr201His
ENST00000579243.1:c.*200T>C ENSP00000462568.1:n.*200T>C
ENST00000614341.4:c.601T>C ENSP00000480279.1:p.Tyr201His
NM_001282489.2:c.292T>C NP_001269418.1:p.Tyr98His
NM_173477.4:c.601T>C NP_775748.2:p.Tyr201His
XM_011524296.1:c.292T>C XP_011522598.1:p.Tyr98His
XM_011524296.2:c.292T>C XP_011522598.1:p.Tyr98His
NM_173477.5:c.601T>C MANE Select NP_775748.2:p.Tyr201His
NM_001282489.3:c.292T>C NP_001269418.1:p.Tyr98His
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