Canonical Allele Identifier: CA400967989
Gene: USH1G HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.72919042C>G (hg19) chr17:g.74922947C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74922947C>G , CM000679.2:g.74922947C>G GRCh38
NC_000017.10:g.72919042C>G , CM000679.1:g.72919042C>G GRCh37
NC_000017.9:g.70430637C>G NCBI36
NG_007882.1:g.5310G>C
NG_033062.1:g.3673C>G
NG_007882.2:g.5317G>C
NG_033062.2:g.3673C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.127G>C MANE Select ENSP00000480279.1:p.Gly43Arg
ENST00000579243.1:c.127G>C ENSP00000462568.1:p.Gly43Arg
ENST00000614341.4:c.127G>C ENSP00000480279.1:p.Gly43Arg
NM_001282489.2:c.-130G>C NP_001269418.1:n.-130G>C
NM_173477.4:c.127G>C NP_775748.2:p.Gly43Arg
NM_173477.5:c.127G>C MANE Select NP_775748.2:p.Gly43Arg
NM_001282489.3:c.-130G>C NP_001269418.1:n.-130G>C
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