Canonical Allele Identifier: CA2259314128

Gene: ORMDL3

Linked Data

• dbSNP Id: rs1978406320

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926184A>G , CM000679.2:g.39926184A>G	GRCh38
NC_000017.10:g.38082437A>G , CM000679.1:g.38082437A>G	GRCh37
NC_000017.9:g.35335963A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1300T>C MANE Select	ENSP00000304858.2:n.-23+1300T>C
ENST00000304046.6:c.-23+1300T>C	ENSP00000304858.2:n.-23+1300T>C
ENST00000394169.5:c.-838T>C	ENSP00000377724.1:n.-838T>C
ENST00000579695.5:c.-18+1300T>C	ENSP00000464693.1:n.-18+1300T>C
ENST00000582052.1:n.186T>C
ENST00000584000.1:c.-23+883T>C	ENSP00000464298.1:n.-23+883T>C
NM_139280.2:c.-23+1300T>C	NP_644809.1:n.-23+1300T>C
XM_005257825.3:c.-23+633T>C	XP_005257882.2:n.-23+633T>C
XM_005257827.2:c.-18+1300T>C	XP_005257884.1:n.-18+1300T>C
NM_001320801.1:c.-838T>C	NP_001307730.1:n.-838T>C
NM_001320802.1:c.-18+1300T>C	NP_001307731.1:n.-18+1300T>C
NM_001320803.1:c.-23+633T>C	NP_001307732.1:n.-23+633T>C
NM_139280.3:c.-23+1300T>C	NP_644809.1:n.-23+1300T>C
NM_139280.4:c.-23+1300T>C MANE Select	NP_644809.1:n.-23+1300T>C
NM_001320802.2:c.-18+1300T>C	NP_001307731.1:n.-18+1300T>C
NM_001320801.2:c.-838T>C	NP_001307730.1:n.-838T>C