Canonical Allele Identifier: CA2275253521
Gene: USH1G HGNC NCBI

Linked Data

dbSNP Id: rs2038866637
gnomAD v4: 17-74916269-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74916269T>C , CM000679.2:g.74916269T>C GRCh38
NC_000017.10:g.72912361T>C , CM000679.1:g.72912361T>C GRCh37
NC_000017.9:g.70423956T>C NCBI36
NG_007882.1:g.11991A>G
NG_007882.2:g.11995A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.*1804A>G MANE Select ENSP00000480279.1:n.*1804A>G
ENST00000614341.4:c.*1804A>G ENSP00000480279.1:n.*1804A>G
NM_001282489.2:c.*1804A>G NP_001269418.1:n.*1804A>G
NM_173477.4:c.*1804A>G NP_775748.2:n.*1804A>G
XM_011524296.1:c.*1804A>G XP_011522598.1:n.*1804A>G
XM_011524296.2:c.*1804A>G XP_011522598.1:n.*1804A>G
NM_173477.5:c.*1804A>G MANE Select NP_775748.2:n.*1804A>G
NM_001282489.3:c.*1804A>G NP_001269418.1:n.*1804A>G
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