Canonical Allele Identifier: CA400967993
Gene: USH1G HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.72919043A>T (hg19) chr17:g.74922948A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74922948A>T , CM000679.2:g.74922948A>T GRCh38
NC_000017.10:g.72919043A>T , CM000679.1:g.72919043A>T GRCh37
NC_000017.9:g.70430638A>T NCBI36
NG_007882.1:g.5309T>A
NG_033062.1:g.3674A>T
NG_007882.2:g.5316T>A
NG_033062.2:g.3674A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.126T>A MANE Select ENSP00000480279.1:p.His42Gln
ENST00000579243.1:c.126T>A ENSP00000462568.1:p.His42Gln
ENST00000614341.4:c.126T>A ENSP00000480279.1:p.His42Gln
NM_001282489.2:c.-131T>A NP_001269418.1:n.-131T>A
NM_173477.4:c.126T>A NP_775748.2:p.His42Gln
NM_173477.5:c.126T>A MANE Select NP_775748.2:p.His42Gln
NM_001282489.3:c.-131T>A NP_001269418.1:n.-131T>A
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