Canonical Allele Identifier: CA400961368
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919588C>G , CM000679.2:g.74919588C>G GRCh38
NC_000017.10:g.72915683C>G , CM000679.1:g.72915683C>G GRCh37
NC_000017.9:g.70427278C>G NCBI36
NG_007882.1:g.8669G>C
NG_033062.1:g.314C>G
NG_007882.2:g.8676G>C
NG_033062.2:g.314C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1248G>C MANE Select ENSP00000480279.1:p.Glu416Asp
ENST00000579243.1:c.*847G>C ENSP00000462568.1:n.*847G>C
ENST00000614341.4:c.1248G>C ENSP00000480279.1:p.Glu416Asp
NM_001282489.2:c.939G>C NP_001269418.1:p.Glu313Asp
NM_173477.4:c.1248G>C NP_775748.2:p.Glu416Asp
XM_011524296.1:c.939G>C XP_011522598.1:p.Glu313Asp
XM_011524296.2:c.939G>C XP_011522598.1:p.Glu313Asp
NM_173477.5:c.1248G>C MANE Select NP_775748.2:p.Glu416Asp
NM_001282489.3:c.939G>C NP_001269418.1:p.Glu313Asp