Canonical Allele Identifier: CA2259314217
Gene: ORMDL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39926363C= , CM000679.2:g.39926363C= GRCh38
NC_000017.10:g.38082616C= , CM000679.1:g.38082616C= GRCh37
NC_000017.9:g.35336142C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000304046.7:c.-23+1121G= MANE Select ENSP00000304858.2:n.-23+1121G=
ENST00000304046.6:c.-23+1121G= ENSP00000304858.2:n.-23+1121G=
ENST00000394169.5:c.-1017G= ENSP00000377724.1:n.-1017G=
ENST00000579695.5:c.-18+1121G= ENSP00000464693.1:n.-18+1121G=
ENST00000582052.1:n.31-24G=
ENST00000584000.1:c.-23+704G= ENSP00000464298.1:n.-23+704G=
NM_139280.2:c.-23+1121G= NP_644809.1:n.-23+1121G=
XM_005257825.3:c.-23+454G= XP_005257882.2:n.-23+454G=
XM_005257827.2:c.-18+1121G= XP_005257884.1:n.-18+1121G=
NM_001320801.1:c.-1017G= NP_001307730.1:n.-1017G=
NM_001320802.1:c.-18+1121G= NP_001307731.1:n.-18+1121G=
NM_001320803.1:c.-23+454G= NP_001307732.1:n.-23+454G=
NM_139280.3:c.-23+1121G= NP_644809.1:n.-23+1121G=
NM_139280.4:c.-23+1121G= MANE Select NP_644809.1:n.-23+1121G=
NM_001320802.2:c.-18+1121G= NP_001307731.1:n.-18+1121G=
NM_001320801.2:c.-1017G= NP_001307730.1:n.-1017G=