Canonical Allele Identifier: CA2259314106
Gene: ORMDL3 HGNC NCBI

Linked Data

dbSNP Id: rs1978403677

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39926114A>T , CM000679.2:g.39926114A>T GRCh38
NC_000017.10:g.38082367A>T , CM000679.1:g.38082367A>T GRCh37
NC_000017.9:g.35335893A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000304046.7:c.-23+1370T>A MANE Select ENSP00000304858.2:n.-23+1370T>A
ENST00000304046.6:c.-23+1370T>A ENSP00000304858.2:n.-23+1370T>A
ENST00000394169.5:c.-768T>A ENSP00000377724.1:n.-768T>A
ENST00000579695.5:c.-18+1370T>A ENSP00000464693.1:n.-18+1370T>A
ENST00000582052.1:n.256T>A
ENST00000584000.1:c.-23+953T>A ENSP00000464298.1:n.-23+953T>A
NM_139280.2:c.-23+1370T>A NP_644809.1:n.-23+1370T>A
XM_005257825.3:c.-23+703T>A XP_005257882.2:n.-23+703T>A
XM_005257827.2:c.-18+1370T>A XP_005257884.1:n.-18+1370T>A
NM_001320801.1:c.-768T>A NP_001307730.1:n.-768T>A
NM_001320802.1:c.-18+1370T>A NP_001307731.1:n.-18+1370T>A
NM_001320803.1:c.-23+703T>A NP_001307732.1:n.-23+703T>A
NM_139280.3:c.-23+1370T>A NP_644809.1:n.-23+1370T>A
NM_139280.4:c.-23+1370T>A MANE Select NP_644809.1:n.-23+1370T>A
NM_001320802.2:c.-18+1370T>A NP_001307731.1:n.-18+1370T>A
NM_001320801.2:c.-768T>A NP_001307730.1:n.-768T>A