Canonical Allele Identifier: CA2639739469
Gene: USH1G HGNC NCBI

Linked Data

gnomAD v4: 17-74916344-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74916344G>T , CM000679.2:g.74916344G>T GRCh38
NC_000017.10:g.72912436G>T , CM000679.1:g.72912436G>T GRCh37
NC_000017.9:g.70424031G>T NCBI36
NG_007882.1:g.11916C>A
NG_007882.2:g.11920C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*1729C>A MANE Select ENSP00000480279.1:n.*1729C>A
ENST00000614341.4:c.*1729C>A ENSP00000480279.1:n.*1729C>A
NM_001282489.2:c.*1729C>A NP_001269418.1:n.*1729C>A
NM_173477.4:c.*1729C>A NP_775748.2:n.*1729C>A
XM_011524296.1:c.*1729C>A XP_011522598.1:n.*1729C>A
XM_011524296.2:c.*1729C>A XP_011522598.1:n.*1729C>A
NM_173477.5:c.*1729C>A MANE Select NP_775748.2:n.*1729C>A
NM_001282489.3:c.*1729C>A NP_001269418.1:n.*1729C>A
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