Canonical Allele Identifier: CA290451199

Gene: ORMDL3

Linked Data

• dbSNP Id: rs1052962116
• gnomAD v3: 17-39926049-C-T
• gnomAD v4: 17-39926049-C-T
• MyVariant Identifiers: chr17:g.38082302C>T (hg19) ; chr17:g.39926049C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926049C>T , CM000679.2:g.39926049C>T	GRCh38
NC_000017.10:g.38082302C>T , CM000679.1:g.38082302C>T	GRCh37
NC_000017.9:g.35335828C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1435G>A MANE Select	ENSP00000304858.2:n.-23+1435G>A
ENST00000304046.6:c.-23+1435G>A	ENSP00000304858.2:n.-23+1435G>A
ENST00000394169.5:c.-703G>A	ENSP00000377724.1:n.-703G>A
ENST00000579695.5:c.-18+1435G>A	ENSP00000464693.1:n.-18+1435G>A
ENST00000582052.1:n.321G>A
ENST00000584000.1:c.-23+1018G>A	ENSP00000464298.1:n.-23+1018G>A
NM_139280.2:c.-23+1435G>A	NP_644809.1:n.-23+1435G>A
XM_005257825.3:c.-23+768G>A	XP_005257882.2:n.-23+768G>A
XM_005257827.2:c.-18+1435G>A	XP_005257884.1:n.-18+1435G>A
NM_001320801.1:c.-703G>A	NP_001307730.1:n.-703G>A
NM_001320802.1:c.-18+1435G>A	NP_001307731.1:n.-18+1435G>A
NM_001320803.1:c.-23+768G>A	NP_001307732.1:n.-23+768G>A
NM_139280.3:c.-23+1435G>A	NP_644809.1:n.-23+1435G>A
NM_139280.4:c.-23+1435G>A MANE Select	NP_644809.1:n.-23+1435G>A
NM_001320802.2:c.-18+1435G>A	NP_001307731.1:n.-18+1435G>A
NM_001320801.2:c.-703G>A	NP_001307730.1:n.-703G>A