Canonical Allele Identifier: CA400963520
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920083G>T , CM000679.2:g.74920083G>T GRCh38
NC_000017.10:g.72916178G>T , CM000679.1:g.72916178G>T GRCh37
NC_000017.9:g.70427773G>T NCBI36
NG_007882.1:g.8174C>A
NG_033062.1:g.809G>T
NG_007882.2:g.8181C>A
NG_033062.2:g.809G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.753C>A MANE Select ENSP00000480279.1:p.Ser251Arg
ENST00000579243.1:c.*352C>A ENSP00000462568.1:n.*352C>A
ENST00000614341.4:c.753C>A ENSP00000480279.1:p.Ser251Arg
NM_001282489.2:c.444C>A NP_001269418.1:p.Ser148Arg
NM_173477.4:c.753C>A NP_775748.2:p.Ser251Arg
XM_011524296.1:c.444C>A XP_011522598.1:p.Ser148Arg
XM_011524296.2:c.444C>A XP_011522598.1:p.Ser148Arg
NM_173477.5:c.753C>A MANE Select NP_775748.2:p.Ser251Arg
NM_001282489.3:c.444C>A NP_001269418.1:p.Ser148Arg