Canonical Allele Identifier: CA400964266
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920208C>A , CM000679.2:g.74920208C>A GRCh38
NC_000017.10:g.72916303C>A , CM000679.1:g.72916303C>A GRCh37
NC_000017.9:g.70427898C>A NCBI36
NG_007882.1:g.8049G>T
NG_033062.1:g.934C>A
NG_007882.2:g.8056G>T
NG_033062.2:g.934C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.628G>T MANE Select ENSP00000480279.1:p.Ala210Ser
ENST00000579243.1:c.*227G>T ENSP00000462568.1:n.*227G>T
ENST00000614341.4:c.628G>T ENSP00000480279.1:p.Ala210Ser
NM_001282489.2:c.319G>T NP_001269418.1:p.Ala107Ser
NM_173477.4:c.628G>T NP_775748.2:p.Ala210Ser
XM_011524296.1:c.319G>T XP_011522598.1:p.Ala107Ser
XM_011524296.2:c.319G>T XP_011522598.1:p.Ala107Ser
NM_173477.5:c.628G>T MANE Select NP_775748.2:p.Ala210Ser
NM_001282489.3:c.319G>T NP_001269418.1:p.Ala107Ser