Canonical Allele Identifier: CA2275253562
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74916354C= , CM000679.2:g.74916354C= GRCh38
NC_000017.10:g.72912446C= , CM000679.1:g.72912446C= GRCh37
NC_000017.9:g.70424041C= NCBI36
NG_007882.1:g.11906G=
NG_007882.2:g.11910G=

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.*1719G= MANE Select ENSP00000480279.1:n.*1719G=
ENST00000614341.4:c.*1719G= ENSP00000480279.1:n.*1719G=
NM_001282489.2:c.*1719G= NP_001269418.1:n.*1719G=
NM_173477.4:c.*1719G= NP_775748.2:n.*1719G=
XM_011524296.1:c.*1719G= XP_011522598.1:n.*1719G=
XM_011524296.2:c.*1719G= XP_011522598.1:n.*1719G=
NM_173477.5:c.*1719G= MANE Select NP_775748.2:n.*1719G=
NM_001282489.3:c.*1719G= NP_001269418.1:n.*1719G=