Canonical Allele Identifier: CA986275976
Gene: USH1G HGNC NCBI

Linked Data

dbSNP Id: rs1177430525
gnomAD v3: 17-74916275-C-G
gnomAD v4: 17-74916275-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74916275C>G , CM000679.2:g.74916275C>G GRCh38
NC_000017.10:g.72912367C>G , CM000679.1:g.72912367C>G GRCh37
NC_000017.9:g.70423962C>G NCBI36
NG_007882.1:g.11985G>C
NG_007882.2:g.11989G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*1798G>C MANE Select ENSP00000480279.1:n.*1798G>C
ENST00000614341.4:c.*1798G>C ENSP00000480279.1:n.*1798G>C
NM_001282489.2:c.*1798G>C NP_001269418.1:n.*1798G>C
NM_173477.4:c.*1798G>C NP_775748.2:n.*1798G>C
XM_011524296.1:c.*1798G>C XP_011522598.1:n.*1798G>C
XM_011524296.2:c.*1798G>C XP_011522598.1:n.*1798G>C
NM_173477.5:c.*1798G>C MANE Select NP_775748.2:n.*1798G>C
NM_001282489.3:c.*1798G>C NP_001269418.1:n.*1798G>C
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