Canonical Allele Identifier: CA2259314315
Community Standard Title: NM_139280.4(ORMDL3):c.-23+906A=
Gene: ORMDL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39926578T= , CM000679.2:g.39926578T= GRCh38
NC_000017.10:g.38082831T= , CM000679.1:g.38082831T= GRCh37
NC_000017.9:g.35336357T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_139280.4:c.-23+906A= MANE Select NP_644809.1:n.-23+906A=
ENST00000304046.7:c.-23+906A= MANE Select ENSP00000304858.2:n.-23+906A=
NM_001320801.1:c.-1232A= NP_001307730.1:n.-1232A=
NM_001320801.2:c.-1232A= NP_001307730.1:n.-1232A=
NM_001320802.1:c.-18+906A= NP_001307731.1:n.-18+906A=
NM_001320802.2:c.-18+906A= NP_001307731.1:n.-18+906A=
NM_001320803.1:c.-23+239A= NP_001307732.1:n.-23+239A=
NM_139280.2:c.-23+906A= NP_644809.1:n.-23+906A=
NM_139280.3:c.-23+906A= NP_644809.1:n.-23+906A=
ENST00000304046.6:c.-23+906A= ENSP00000304858.2:n.-23+906A=
ENST00000394169.5:c.-1232A= ENSP00000377724.1:n.-1232A=
ENST00000579695.5:c.-18+906A= ENSP00000464693.1:n.-18+906A=
ENST00000582052.1:n.31-239A=
ENST00000584000.1:c.-23+489A= ENSP00000464298.1:n.-23+489A=
XM_005257825.3:c.-23+239A= XP_005257882.2:n.-23+239A=
XM_005257827.2:c.-18+906A= XP_005257884.1:n.-18+906A=