Canonical Allele Identifier: CA400963206
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920034C>T , CM000679.2:g.74920034C>T GRCh38
NC_000017.10:g.72916129C>T , CM000679.1:g.72916129C>T GRCh37
NC_000017.9:g.70427724C>T NCBI36
NG_007882.1:g.8223G>A
NG_033062.1:g.760C>T
NG_007882.2:g.8230G>A
NG_033062.2:g.760C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.802G>A MANE Select ENSP00000480279.1:p.Gly268Ser
ENST00000579243.1:c.*401G>A ENSP00000462568.1:n.*401G>A
ENST00000614341.4:c.802G>A ENSP00000480279.1:p.Gly268Ser
NM_001282489.2:c.493G>A NP_001269418.1:p.Gly165Ser
NM_173477.4:c.802G>A NP_775748.2:p.Gly268Ser
XM_011524296.1:c.493G>A XP_011522598.1:p.Gly165Ser
XM_011524296.2:c.493G>A XP_011522598.1:p.Gly165Ser
NM_173477.5:c.802G>A MANE Select NP_775748.2:p.Gly268Ser
NM_001282489.3:c.493G>A NP_001269418.1:p.Gly165Ser