Canonical Allele Identifier: CA8753916
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 1348411
ClinVar RCV Id: RCV002044301
dbSNP Id: rs748416580
ExAC: 17:72915729 A / G
gnomAD v2: 17-72915729-A-G
gnomAD v4: 17-74919634-A-G
MyVariant Identifiers: chr17:g.72915729A>G (hg19) chr17:g.74919634A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919634A>G , CM000679.2:g.74919634A>G GRCh38
NC_000017.10:g.72915729A>G , CM000679.1:g.72915729A>G GRCh37
NC_000017.9:g.70427324A>G NCBI36
NG_007882.1:g.8623T>C
NG_033062.1:g.360A>G
NG_007882.2:g.8630T>C
NG_033062.2:g.360A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1202T>C MANE Select ENSP00000480279.1:p.Met401Thr
ENST00000579243.1:c.*801T>C ENSP00000462568.1:n.*801T>C
ENST00000614341.4:c.1202T>C ENSP00000480279.1:p.Met401Thr
NM_001282489.2:c.893T>C NP_001269418.1:p.Met298Thr
NM_173477.4:c.1202T>C NP_775748.2:p.Met401Thr
XM_011524296.1:c.893T>C XP_011522598.1:p.Met298Thr
XM_011524296.2:c.893T>C XP_011522598.1:p.Met298Thr
NM_173477.5:c.1202T>C MANE Select NP_775748.2:p.Met401Thr
NM_001282489.3:c.893T>C NP_001269418.1:p.Met298Thr
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