Canonical Allele Identifier: CA2275256858

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74922953A= , CM000679.2:g.74922953A= GRCh38
NC_000017.10:g.72919048A= , CM000679.1:g.72919048A= GRCh37
NC_000017.9:g.70430643A= NCBI36
NG_007882.1:g.5304T=
NG_033062.1:g.3679A=
NG_007882.2:g.5311T=
NG_033062.2:g.3679A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000580223.2:c.-312A= (OTOP2) ENSP00000463837.2:n.-312A=
ENST00000614341.5:c.121T= (USH1G) MANE Select ENSP00000480279.1:p.Tyr41=
ENST00000579243.1:c.121T= (USH1G) ENSP00000462568.1:p.Tyr41=
ENST00000614341.4:c.121T= (USH1G) ENSP00000480279.1:p.Tyr41=
NM_001282489.2:c.-136T= (USH1G) NP_001269418.1:n.-136T=
NM_173477.4:c.121T= (USH1G) NP_775748.2:p.Tyr41=
NM_173477.5:c.121T= (USH1G) MANE Select NP_775748.2:p.Tyr41=
NM_001282489.3:c.-136T= (USH1G) NP_001269418.1:n.-136T=