Canonical Allele Identifier: CA293983513
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 1047428
ClinVar RCV Id: RCV001352135
dbSNP Id: rs997638798
gnomAD v2: 17-72915723-T-C
gnomAD v3: 17-74919628-T-C
gnomAD v4: 17-74919628-T-C
MyVariant Identifiers: chr17:g.72915723T>C (hg19) chr17:g.74919628T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919628T>C , CM000679.2:g.74919628T>C GRCh38
NC_000017.10:g.72915723T>C , CM000679.1:g.72915723T>C GRCh37
NC_000017.9:g.70427318T>C NCBI36
NG_007882.1:g.8629A>G
NG_033062.1:g.354T>C
NG_007882.2:g.8636A>G
NG_033062.2:g.354T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1208A>G MANE Select ENSP00000480279.1:p.Asp403Gly
ENST00000579243.1:c.*807A>G ENSP00000462568.1:n.*807A>G
ENST00000614341.4:c.1208A>G ENSP00000480279.1:p.Asp403Gly
NM_001282489.2:c.899A>G NP_001269418.1:p.Asp300Gly
NM_173477.4:c.1208A>G NP_775748.2:p.Asp403Gly
XM_011524296.1:c.899A>G XP_011522598.1:p.Asp300Gly
XM_011524296.2:c.899A>G XP_011522598.1:p.Asp300Gly
NM_173477.5:c.1208A>G MANE Select NP_775748.2:p.Asp403Gly
NM_001282489.3:c.899A>G NP_001269418.1:p.Asp300Gly
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