Canonical Allele Identifier: CA8754033
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 850726
ClinVar RCV Id: RCV001054957 RCV001124408
dbSNP Id: rs200197601
ExAC: 17:72916296 C / G
gnomAD v2: 17-72916296-C-G
gnomAD v3: 17-74920201-C-G
gnomAD v4: 17-74920201-C-G
MyVariant Identifiers: chr17:g.72916296C>G (hg19) chr17:g.74920201C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920201C>G , CM000679.2:g.74920201C>G GRCh38
NC_000017.10:g.72916296C>G , CM000679.1:g.72916296C>G GRCh37
NC_000017.9:g.70427891C>G NCBI36
NG_007882.1:g.8056G>C
NG_033062.1:g.927C>G
NG_007882.2:g.8063G>C
NG_033062.2:g.927C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.635G>C MANE Select ENSP00000480279.1:p.Gly212Ala
ENST00000579243.1:c.*234G>C ENSP00000462568.1:n.*234G>C
ENST00000614341.4:c.635G>C ENSP00000480279.1:p.Gly212Ala
NM_001282489.2:c.326G>C NP_001269418.1:p.Gly109Ala
NM_173477.4:c.635G>C NP_775748.2:p.Gly212Ala
XM_011524296.1:c.326G>C XP_011522598.1:p.Gly109Ala
XM_011524296.2:c.326G>C XP_011522598.1:p.Gly109Ala
NM_173477.5:c.635G>C MANE Select NP_775748.2:p.Gly212Ala
NM_001282489.3:c.326G>C NP_001269418.1:p.Gly109Ala
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