Canonical Allele Identifier: CA400963861
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920148T>G , CM000679.2:g.74920148T>G GRCh38
NC_000017.10:g.72916243T>G , CM000679.1:g.72916243T>G GRCh37
NC_000017.9:g.70427838T>G NCBI36
NG_007882.1:g.8109A>C
NG_033062.1:g.874T>G
NG_007882.2:g.8116A>C
NG_033062.2:g.874T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.688A>C MANE Select ENSP00000480279.1:p.Thr230Pro
ENST00000579243.1:c.*287A>C ENSP00000462568.1:n.*287A>C
ENST00000614341.4:c.688A>C ENSP00000480279.1:p.Thr230Pro
NM_001282489.2:c.379A>C NP_001269418.1:p.Thr127Pro
NM_173477.4:c.688A>C NP_775748.2:p.Thr230Pro
XM_011524296.1:c.379A>C XP_011522598.1:p.Thr127Pro
XM_011524296.2:c.379A>C XP_011522598.1:p.Thr127Pro
NM_173477.5:c.688A>C MANE Select NP_775748.2:p.Thr230Pro
NM_001282489.3:c.379A>C NP_001269418.1:p.Thr127Pro