Canonical Allele Identifier: CA400961921
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919781A>T , CM000679.2:g.74919781A>T GRCh38
NC_000017.10:g.72915876A>T , CM000679.1:g.72915876A>T GRCh37
NC_000017.9:g.70427471A>T NCBI36
NG_007882.1:g.8476T>A
NG_033062.1:g.507A>T
NG_007882.2:g.8483T>A
NG_033062.2:g.507A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1055T>A MANE Select ENSP00000480279.1:p.Leu352Gln
ENST00000579243.1:c.*654T>A ENSP00000462568.1:n.*654T>A
ENST00000614341.4:c.1055T>A ENSP00000480279.1:p.Leu352Gln
NM_001282489.2:c.746T>A NP_001269418.1:p.Leu249Gln
NM_173477.4:c.1055T>A NP_775748.2:p.Leu352Gln
XM_011524296.1:c.746T>A XP_011522598.1:p.Leu249Gln
XM_011524296.2:c.746T>A XP_011522598.1:p.Leu249Gln
NM_173477.5:c.1055T>A MANE Select NP_775748.2:p.Leu352Gln
NM_001282489.3:c.746T>A NP_001269418.1:p.Leu249Gln