Canonical Allele Identifier: CA15916355
Gene: ORMDL3 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.39921159G>A
GRCh37 chr17:g.38077412G>A
gnomAD v2:
17:38077412 G / A
gnomAD v3:
17:39921159 G / A
gnomAD v4:
chr17-39921159-G-A
Joint Max Group AF 0.0403237 (NFE)
Genomes Max Group AF 0.04029878 (NFE)
Exomes Max Group AF 0.02462656 (NFE)
dbSNP:
3169572
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39921159G>A , CM000679.2:g.39921159G>A GRCh38
NC_000017.10:g.38077412G>A , CM000679.1:g.38077412G>A GRCh37
NC_000017.9:g.35330938G>A NCBI36
NG_015804.1:g.2492C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304046.7:c.*1391C>T MANE Select ENSP00000304858.2:n.*1391C>T
ENST00000304046.6:c.*1391C>T ENSP00000304858.2:n.*1391C>T
ENST00000579287.1:n.233C>T
ENST00000579695.5:c.*1391C>T ENSP00000464693.1:n.*1391C>T
NM_139280.2:c.*1391C>T NP_644809.1:n.*1391C>T
XM_005257825.3:c.*1391C>T XP_005257882.2:n.*1391C>T
XM_005257827.2:c.*1391C>T XP_005257884.1:n.*1391C>T
NM_001320801.1:c.*1391C>T NP_001307730.1:n.*1391C>T
NM_001320802.1:c.*1391C>T NP_001307731.1:n.*1391C>T
NM_001320803.1:c.*1391C>T NP_001307732.1:n.*1391C>T
NM_139280.3:c.*1391C>T NP_644809.1:n.*1391C>T
NM_139280.4:c.*1391C>T MANE Select NP_644809.1:n.*1391C>T
NM_001320802.2:c.*1391C>T NP_001307731.1:n.*1391C>T
NM_001320801.2:c.*1391C>T NP_001307730.1:n.*1391C>T
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