Canonical Allele Identifier: CA625945716

Gene: ORMDL3

Linked Data

• dbSNP Id: rs1457636854
• gnomAD v2: 17-38082749-G-T
• gnomAD v3: 17-39926496-G-T
• gnomAD v4: 17-39926496-G-T
• MyVariant Identifiers: chr17:g.38082749G>T (hg19) ; chr17:g.39926496G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926496G>T , CM000679.2:g.39926496G>T	GRCh38
NC_000017.10:g.38082749G>T , CM000679.1:g.38082749G>T	GRCh37
NC_000017.9:g.35336275G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+988C>A MANE Select	ENSP00000304858.2:n.-23+988C>A
ENST00000304046.6:c.-23+988C>A	ENSP00000304858.2:n.-23+988C>A
ENST00000394169.5:c.-1150C>A	ENSP00000377724.1:n.-1150C>A
ENST00000579695.5:c.-18+988C>A	ENSP00000464693.1:n.-18+988C>A
ENST00000582052.1:n.31-157C>A
ENST00000584000.1:c.-23+571C>A	ENSP00000464298.1:n.-23+571C>A
NM_139280.2:c.-23+988C>A	NP_644809.1:n.-23+988C>A
XM_005257825.3:c.-23+321C>A	XP_005257882.2:n.-23+321C>A
XM_005257827.2:c.-18+988C>A	XP_005257884.1:n.-18+988C>A
NM_001320801.1:c.-1150C>A	NP_001307730.1:n.-1150C>A
NM_001320802.1:c.-18+988C>A	NP_001307731.1:n.-18+988C>A
NM_001320803.1:c.-23+321C>A	NP_001307732.1:n.-23+321C>A
NM_139280.3:c.-23+988C>A	NP_644809.1:n.-23+988C>A
NM_139280.4:c.-23+988C>A MANE Select	NP_644809.1:n.-23+988C>A
NM_001320802.2:c.-18+988C>A	NP_001307731.1:n.-18+988C>A
NM_001320801.2:c.-1150C>A	NP_001307730.1:n.-1150C>A