Canonical Allele Identifier: CA1891467060
Gene: OPTN HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13123664A= , CM000672.2:g.13123664A= GRCh38
NC_000010.10:g.13165664A= , CM000672.1:g.13165664A= GRCh37
NC_000010.9:g.13205670A= NCBI36
NG_012876.1:g.28583A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378747.8:c.883-331A= MANE Select ENSP00000368021.3:n.883-331A=
ENST00000263036.9:c.883-331A= ENSP00000263036.3:n.883-331A=
ENST00000378747.7:c.883-331A= ENSP00000368021.3:n.883-331A=
ENST00000378748.7:c.883-331A= ENSP00000368022.3:n.883-331A=
ENST00000378752.7:c.865-331A= ENSP00000368027.3:n.865-331A=
ENST00000378757.6:c.883-331A= ENSP00000368032.2:n.883-331A=
ENST00000378764.6:c.865-331A= ENSP00000368040.1:n.865-331A=
NM_001008211.1:c.883-331A= NP_001008212.1:n.883-331A=
NM_001008212.1:c.883-331A= NP_001008213.1:n.883-331A=
NM_001008213.1:c.883-331A= NP_001008214.1:n.883-331A=
NM_021980.4:c.883-331A= NP_068815.2:n.883-331A=
XM_005252336.2:c.865-331A= XP_005252393.2:n.865-331A=
XM_005252337.3:c.865-331A= XP_005252394.2:n.865-331A=
XM_005252338.2:c.712-331A= XP_005252395.2:n.712-331A=
NM_001008212.2:c.883-331A= MANE Select NP_001008213.1:n.883-331A=
Search 100 bp 5'
Search 100 bp 3'