Canonical Allele Identifier: CA400967999
Gene: USH1G HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.72919044T>G (hg19) chr17:g.74922949T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74922949T>G , CM000679.2:g.74922949T>G GRCh38
NC_000017.10:g.72919044T>G , CM000679.1:g.72919044T>G GRCh37
NC_000017.9:g.70430639T>G NCBI36
NG_007882.1:g.5308A>C
NG_033062.1:g.3675T>G
NG_007882.2:g.5315A>C
NG_033062.2:g.3675T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.125A>C MANE Select ENSP00000480279.1:p.His42Pro
ENST00000579243.1:c.125A>C ENSP00000462568.1:p.His42Pro
ENST00000614341.4:c.125A>C ENSP00000480279.1:p.His42Pro
NM_001282489.2:c.-132A>C NP_001269418.1:n.-132A>C
NM_173477.4:c.125A>C NP_775748.2:p.His42Pro
NM_173477.5:c.125A>C MANE Select NP_775748.2:p.His42Pro
NM_001282489.3:c.-132A>C NP_001269418.1:n.-132A>C
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