Canonical Allele Identifier: CA400961755
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919742T>G , CM000679.2:g.74919742T>G GRCh38
NC_000017.10:g.72915837T>G , CM000679.1:g.72915837T>G GRCh37
NC_000017.9:g.70427432T>G NCBI36
NG_007882.1:g.8515A>C
NG_033062.1:g.468T>G
NG_007882.2:g.8522A>C
NG_033062.2:g.468T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1094A>C MANE Select ENSP00000480279.1:p.Asp365Ala
ENST00000579243.1:c.*693A>C ENSP00000462568.1:n.*693A>C
ENST00000614341.4:c.1094A>C ENSP00000480279.1:p.Asp365Ala
NM_001282489.2:c.785A>C NP_001269418.1:p.Asp262Ala
NM_173477.4:c.1094A>C NP_775748.2:p.Asp365Ala
XM_011524296.1:c.785A>C XP_011522598.1:p.Asp262Ala
XM_011524296.2:c.785A>C XP_011522598.1:p.Asp262Ala
NM_173477.5:c.1094A>C MANE Select NP_775748.2:p.Asp365Ala
NM_001282489.3:c.785A>C NP_001269418.1:p.Asp262Ala