Canonical Allele Identifier: CA2275256745
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74922749A= , CM000679.2:g.74922749A= GRCh38
NC_000017.10:g.72918844A= , CM000679.1:g.72918844A= GRCh37
NC_000017.9:g.70430439A= NCBI36
NG_007882.1:g.5508T=
NG_033062.1:g.3475A=
NG_007882.2:g.5515T=
NG_033062.2:g.3475A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.164+161T= MANE Select ENSP00000480279.1:n.164+161T=
ENST00000579243.1:c.164+161T= ENSP00000462568.1:n.164+161T=
ENST00000614341.4:c.164+161T= ENSP00000480279.1:n.164+161T=
NM_001282489.2:c.-93+161T= NP_001269418.1:n.-93+161T=
NM_173477.4:c.164+161T= NP_775748.2:n.164+161T=
XM_011524296.1:c.-319T= XP_011522598.1:n.-319T=
XM_011524296.2:c.-319T= XP_011522598.1:n.-319T=
NM_173477.5:c.164+161T= MANE Select NP_775748.2:n.164+161T=
NM_001282489.3:c.-93+161T= NP_001269418.1:n.-93+161T=