Canonical Allele Identifier: CA2259311767
Community Standard Title: NM_139280.4(ORMDL3):c.*1391C=
Gene: ORMDL3 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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