Canonical Allele Identifier: CA2275254064
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917255T= , CM000679.2:g.74917255T= GRCh38
NC_000017.10:g.72913349T= , CM000679.1:g.72913349T= GRCh37
NC_000017.9:g.70424944T= NCBI36
NG_007882.1:g.11003A=
NG_007882.2:g.11009A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*818A= MANE Select ENSP00000480279.1:n.*818A=
ENST00000614341.4:c.*818A= ENSP00000480279.1:n.*818A=
NM_001282489.2:c.*818A= NP_001269418.1:n.*818A=
NM_173477.4:c.*818A= NP_775748.2:n.*818A=
XM_011524296.1:c.*818A= XP_011522598.1:n.*818A=
XM_011524296.2:c.*818A= XP_011522598.1:n.*818A=
NM_173477.5:c.*818A= MANE Select NP_775748.2:n.*818A=
NM_001282489.3:c.*818A= NP_001269418.1:n.*818A=