Canonical Allele Identifier: CA404665681
Gene: OCEL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17226723G>T , CM000681.2:g.17226723G>T GRCh38
NC_000019.9:g.17337532G>T , CM000681.1:g.17337532G>T GRCh37
NC_000019.8:g.17198532G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000215061.9:c.100G>T MANE Select ENSP00000215061.3:p.Gly34Ter
ENST00000215061.8:c.100G>T ENSP00000215061.3:p.Gly34Ter
ENST00000594283.5:n.105G>T
ENST00000597836.5:c.-69G>T ENSP00000470270.1:n.-69G>T
ENST00000599588.5:n.122G>T
ENST00000600232.5:c.95G>T
ENST00000601529.5:c.100G>T ENSP00000471201.1:p.Gly34Ter
ENST00000601576.1:n.163G>T
ENST00000602236.5:n.172G>T
NM_024578.2:c.100G>T NP_078854.1:p.Gly34Ter
XM_005260079.2:c.-69G>T XP_005260136.1:n.-69G>T
XM_006722899.2:c.100G>T XP_006722962.1:p.Gly34Ter
XM_006722899.4:c.100G>T XP_006722962.1:p.Gly34Ter
XM_017027306.1:c.-69G>T XP_016882795.1:n.-69G>T
NM_024578.3:c.100G>T MANE Select NP_078854.1:p.Gly34Ter