Canonical Allele Identifier: CA986277288
Gene: USH1G HGNC NCBI

Linked Data

gnomAD v3: 17-74919375-A-C
gnomAD v4: 17-74919375-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919375A>C , CM000679.2:g.74919375A>C GRCh38
NC_000017.10:g.72915470A>C , CM000679.1:g.72915470A>C GRCh37
NC_000017.9:g.70427065A>C NCBI36
NG_007882.1:g.8882T>G
NG_033062.1:g.101A>C
NG_007882.2:g.8889T>G
NG_033062.2:g.101A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.1382+79T>G MANE Select ENSP00000480279.1:n.1382+79T>G
ENST00000579243.1:c.*981+79T>G ENSP00000462568.1:n.*981+79T>G
ENST00000614341.4:c.1382+79T>G ENSP00000480279.1:n.1382+79T>G
NM_001282489.2:c.1073+79T>G NP_001269418.1:n.1073+79T>G
NM_173477.4:c.1382+79T>G NP_775748.2:n.1382+79T>G
XM_011524296.1:c.1073+79T>G XP_011522598.1:n.1073+79T>G
XM_011524296.2:c.1073+79T>G XP_011522598.1:n.1073+79T>G
NM_173477.5:c.1382+79T>G MANE Select NP_775748.2:n.1382+79T>G
NM_001282489.3:c.1073+79T>G NP_001269418.1:n.1073+79T>G
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