Canonical Allele Identifier: CA8753979
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 1011131
ClinVar RCV Id: RCV001308891
dbSNP Id: rs752079552
ExAC: 17:72916051 G / C
gnomAD v2: 17-72916051-G-C
gnomAD v3: 17-74919956-G-C
gnomAD v4: 17-74919956-G-C
MyVariant Identifiers: chr17:g.72916051G>C (hg19) chr17:g.74919956G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919956G>C , CM000679.2:g.74919956G>C GRCh38
NC_000017.10:g.72916051G>C , CM000679.1:g.72916051G>C GRCh37
NC_000017.9:g.70427646G>C NCBI36
NG_007882.1:g.8301C>G
NG_033062.1:g.682G>C
NG_007882.2:g.8308C>G
NG_033062.2:g.682G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.880C>G MANE Select ENSP00000480279.1:p.His294Asp
ENST00000579243.1:c.*479C>G ENSP00000462568.1:n.*479C>G
ENST00000614341.4:c.880C>G ENSP00000480279.1:p.His294Asp
NM_001282489.2:c.571C>G NP_001269418.1:p.His191Asp
NM_173477.4:c.880C>G NP_775748.2:p.His294Asp
XM_011524296.1:c.571C>G XP_011522598.1:p.His191Asp
XM_011524296.2:c.571C>G XP_011522598.1:p.His191Asp
NM_173477.5:c.880C>G MANE Select NP_775748.2:p.His294Asp
NM_001282489.3:c.571C>G NP_001269418.1:p.His191Asp
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