Canonical Allele Identifier: CA2734171497
Gene: USH1G HGNC NCBI

Linked Data

dbSNP Id: rs2144748914
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917481A>G , CM000679.2:g.74917481A>G GRCh38
NC_000017.10:g.72913575A>G , CM000679.1:g.72913575A>G GRCh37
NC_000017.9:g.70425170A>G NCBI36
NG_007882.1:g.10777T>C
NG_007882.2:g.10783T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*592T>C MANE Select ENSP00000480279.1:n.*592T>C
ENST00000614341.4:c.*592T>C ENSP00000480279.1:n.*592T>C
NM_001282489.2:c.*592T>C NP_001269418.1:n.*592T>C
NM_173477.4:c.*592T>C NP_775748.2:n.*592T>C
XM_011524296.1:c.*592T>C XP_011522598.1:n.*592T>C
XM_011524296.2:c.*592T>C XP_011522598.1:n.*592T>C
NM_173477.5:c.*592T>C MANE Select NP_775748.2:n.*592T>C
NM_001282489.3:c.*592T>C NP_001269418.1:n.*592T>C
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