Canonical Allele Identifier: CA2259313432
Community Standard Title: NM_139280.4(ORMDL3):c.-22-434C=
Gene: ORMDL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39924659G= , CM000679.2:g.39924659G= GRCh38
NC_000017.10:g.38080912G= , CM000679.1:g.38080912G= GRCh37
NC_000017.9:g.35334438G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_139280.4:c.-22-434C= MANE Select NP_644809.1:n.-22-434C=
ENST00000304046.7:c.-22-434C= MANE Select ENSP00000304858.2:n.-22-434C=
NM_001320801.1:c.-23+96C= NP_001307730.1:n.-23+96C=
NM_001320801.2:c.-23+96C= NP_001307730.1:n.-23+96C=
NM_001320802.1:c.-17-439C= NP_001307731.1:n.-17-439C=
NM_001320802.2:c.-17-439C= NP_001307731.1:n.-17-439C=
NM_001320803.1:c.-22-434C= NP_001307732.1:n.-22-434C=
NM_139280.2:c.-22-434C= NP_644809.1:n.-22-434C=
NM_139280.3:c.-22-434C= NP_644809.1:n.-22-434C=
ENST00000304046.6:c.-22-434C= ENSP00000304858.2:n.-22-434C=
ENST00000394169.5:c.-23+96C= ENSP00000377724.1:n.-23+96C=
ENST00000579695.5:c.-17-439C= ENSP00000464693.1:n.-17-439C=
ENST00000584000.1:c.-22-434C= ENSP00000464298.1:n.-22-434C=
XM_005257825.3:c.-22-434C= XP_005257882.2:n.-22-434C=
XM_005257827.2:c.-17-439C= XP_005257884.1:n.-17-439C=