Canonical Allele Identifier: CA2275256757
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74922762G= , CM000679.2:g.74922762G= GRCh38
NC_000017.10:g.72918857G= , CM000679.1:g.72918857G= GRCh37
NC_000017.9:g.70430452G= NCBI36
NG_007882.1:g.5495C=
NG_033062.1:g.3488G=
NG_007882.2:g.5502C=
NG_033062.2:g.3488G=

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.164+148C= MANE Select ENSP00000480279.1:n.164+148C=
ENST00000579243.1:c.164+148C= ENSP00000462568.1:n.164+148C=
ENST00000614341.4:c.164+148C= ENSP00000480279.1:n.164+148C=
NM_001282489.2:c.-93+148C= NP_001269418.1:n.-93+148C=
NM_173477.4:c.164+148C= NP_775748.2:n.164+148C=
XM_011524296.1:c.-332C= XP_011522598.1:n.-332C=
XM_011524296.2:c.-332C= XP_011522598.1:n.-332C=
NM_173477.5:c.164+148C= MANE Select NP_775748.2:n.164+148C=
NM_001282489.3:c.-93+148C= NP_001269418.1:n.-93+148C=