Canonical Allele Identifier: CA8753907
Gene: USH1G HGNC NCBI

Linked Data

dbSNP Id: rs752359635

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919604T>C , CM000679.2:g.74919604T>C GRCh38
NC_000017.10:g.72915699T>C , CM000679.1:g.72915699T>C GRCh37
NC_000017.9:g.70427294T>C NCBI36
NG_007882.1:g.8653A>G
NG_033062.1:g.330T>C
NG_007882.2:g.8660A>G
NG_033062.2:g.330T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1232A>G MANE Select ENSP00000480279.1:p.Glu411Gly
ENST00000579243.1:c.*831A>G ENSP00000462568.1:n.*831A>G
ENST00000614341.4:c.1232A>G ENSP00000480279.1:p.Glu411Gly
NM_001282489.2:c.923A>G NP_001269418.1:p.Glu308Gly
NM_173477.4:c.1232A>G NP_775748.2:p.Glu411Gly
XM_011524296.1:c.923A>G XP_011522598.1:p.Glu308Gly
XM_011524296.2:c.923A>G XP_011522598.1:p.Glu308Gly
NM_173477.5:c.1232A>G MANE Select NP_775748.2:p.Glu411Gly
NM_001282489.3:c.923A>G NP_001269418.1:p.Glu308Gly