Canonical Allele Identifier: CA8753971
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 841407
ClinVar RCV Id: RCV001043619
dbSNP Id: rs764111098
ExAC: 17:72916017 G / C
gnomAD v2: 17-72916017-G-C
gnomAD v3: 17-74919922-G-C
gnomAD v4: 17-74919922-G-C
MyVariant Identifiers: chr17:g.72916017G>C (hg19) chr17:g.74919922G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919922G>C , CM000679.2:g.74919922G>C GRCh38
NC_000017.10:g.72916017G>C , CM000679.1:g.72916017G>C GRCh37
NC_000017.9:g.70427612G>C NCBI36
NG_007882.1:g.8335C>G
NG_033062.1:g.648G>C
NG_007882.2:g.8342C>G
NG_033062.2:g.648G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.914C>G MANE Select ENSP00000480279.1:p.Ser305Cys
ENST00000579243.1:c.*513C>G ENSP00000462568.1:n.*513C>G
ENST00000614341.4:c.914C>G ENSP00000480279.1:p.Ser305Cys
NM_001282489.2:c.605C>G NP_001269418.1:p.Ser202Cys
NM_173477.4:c.914C>G NP_775748.2:p.Ser305Cys
XM_011524296.1:c.605C>G XP_011522598.1:p.Ser202Cys
XM_011524296.2:c.605C>G XP_011522598.1:p.Ser202Cys
NM_173477.5:c.914C>G MANE Select NP_775748.2:p.Ser305Cys
NM_001282489.3:c.605C>G NP_001269418.1:p.Ser202Cys
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