Canonical Allele Identifier: CA400961382
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919595T>A , CM000679.2:g.74919595T>A GRCh38
NC_000017.10:g.72915690T>A , CM000679.1:g.72915690T>A GRCh37
NC_000017.9:g.70427285T>A NCBI36
NG_007882.1:g.8662A>T
NG_033062.1:g.321T>A
NG_007882.2:g.8669A>T
NG_033062.2:g.321T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1241A>T MANE Select ENSP00000480279.1:p.Asp414Val
ENST00000579243.1:c.*840A>T ENSP00000462568.1:n.*840A>T
ENST00000614341.4:c.1241A>T ENSP00000480279.1:p.Asp414Val
NM_001282489.2:c.932A>T NP_001269418.1:p.Asp311Val
NM_173477.4:c.1241A>T NP_775748.2:p.Asp414Val
XM_011524296.1:c.932A>T XP_011522598.1:p.Asp311Val
XM_011524296.2:c.932A>T XP_011522598.1:p.Asp311Val
NM_173477.5:c.1241A>T MANE Select NP_775748.2:p.Asp414Val
NM_001282489.3:c.932A>T NP_001269418.1:p.Asp311Val