Canonical Allele Identifier: CA400964264
Gene: USH1G HGNC NCBI

Linked Data

dbSNP Id: rs2038922457

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920207G>T , CM000679.2:g.74920207G>T GRCh38
NC_000017.10:g.72916302G>T , CM000679.1:g.72916302G>T GRCh37
NC_000017.9:g.70427897G>T NCBI36
NG_007882.1:g.8050C>A
NG_033062.1:g.933G>T
NG_007882.2:g.8057C>A
NG_033062.2:g.933G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.629C>A MANE Select ENSP00000480279.1:p.Ala210Asp
ENST00000579243.1:c.*228C>A ENSP00000462568.1:n.*228C>A
ENST00000614341.4:c.629C>A ENSP00000480279.1:p.Ala210Asp
NM_001282489.2:c.320C>A NP_001269418.1:p.Ala107Asp
NM_173477.4:c.629C>A NP_775748.2:p.Ala210Asp
XM_011524296.1:c.320C>A XP_011522598.1:p.Ala107Asp
XM_011524296.2:c.320C>A XP_011522598.1:p.Ala107Asp
NM_173477.5:c.629C>A MANE Select NP_775748.2:p.Ala210Asp
NM_001282489.3:c.320C>A NP_001269418.1:p.Ala107Asp