Canonical Allele Identifier: CA2275256762
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74922768C= , CM000679.2:g.74922768C= GRCh38
NC_000017.10:g.72918863C= , CM000679.1:g.72918863C= GRCh37
NC_000017.9:g.70430458C= NCBI36
NG_007882.1:g.5489G=
NG_033062.1:g.3494C=
NG_007882.2:g.5496G=
NG_033062.2:g.3494C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.164+142G= MANE Select ENSP00000480279.1:n.164+142G=
ENST00000579243.1:c.164+142G= ENSP00000462568.1:n.164+142G=
ENST00000614341.4:c.164+142G= ENSP00000480279.1:n.164+142G=
NM_001282489.2:c.-93+142G= NP_001269418.1:n.-93+142G=
NM_173477.4:c.164+142G= NP_775748.2:n.164+142G=
XM_011524296.1:c.-338G= XP_011522598.1:n.-338G=
XM_011524296.2:c.-338G= XP_011522598.1:n.-338G=
NM_173477.5:c.164+142G= MANE Select NP_775748.2:n.164+142G=
NM_001282489.3:c.-93+142G= NP_001269418.1:n.-93+142G=