Canonical Allele Identifier: CA8753984
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 935926
ClinVar RCV Id: RCV001204620 RCV002491616
dbSNP Id: rs199782834
ExAC: 17:72916072 T / C
gnomAD v2: 17-72916072-T-C
gnomAD v3: 17-74919977-T-C
gnomAD v4: 17-74919977-T-C
MyVariant Identifiers: chr17:g.72916072T>C (hg19) chr17:g.74919977T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919977T>C , CM000679.2:g.74919977T>C GRCh38
NC_000017.10:g.72916072T>C , CM000679.1:g.72916072T>C GRCh37
NC_000017.9:g.70427667T>C NCBI36
NG_007882.1:g.8280A>G
NG_033062.1:g.703T>C
NG_007882.2:g.8287A>G
NG_033062.2:g.703T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.859A>G MANE Select ENSP00000480279.1:p.Thr287Ala
ENST00000579243.1:c.*458A>G ENSP00000462568.1:n.*458A>G
ENST00000614341.4:c.859A>G ENSP00000480279.1:p.Thr287Ala
NM_001282489.2:c.550A>G NP_001269418.1:p.Thr184Ala
NM_173477.4:c.859A>G NP_775748.2:p.Thr287Ala
XM_011524296.1:c.550A>G XP_011522598.1:p.Thr184Ala
XM_011524296.2:c.550A>G XP_011522598.1:p.Thr184Ala
NM_173477.5:c.859A>G MANE Select NP_775748.2:p.Thr287Ala
NM_001282489.3:c.550A>G NP_001269418.1:p.Thr184Ala
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