Canonical Allele Identifier: CA2639739509
Gene: USH1G HGNC NCBI

Linked Data

gnomAD v4: 17-74916358-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74916358C>T , CM000679.2:g.74916358C>T GRCh38
NC_000017.10:g.72912450C>T , CM000679.1:g.72912450C>T GRCh37
NC_000017.9:g.70424045C>T NCBI36
NG_007882.1:g.11902G>A
NG_007882.2:g.11906G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.*1715G>A MANE Select ENSP00000480279.1:n.*1715G>A
ENST00000614341.4:c.*1715G>A ENSP00000480279.1:n.*1715G>A
NM_001282489.2:c.*1715G>A NP_001269418.1:n.*1715G>A
NM_173477.4:c.*1715G>A NP_775748.2:n.*1715G>A
XM_011524296.1:c.*1715G>A XP_011522598.1:n.*1715G>A
XM_011524296.2:c.*1715G>A XP_011522598.1:n.*1715G>A
NM_173477.5:c.*1715G>A MANE Select NP_775748.2:n.*1715G>A
NM_001282489.3:c.*1715G>A NP_001269418.1:n.*1715G>A
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