Canonical Allele Identifier: CA2740091829

Gene: ELANE

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.852402T>A , CM000681.2:g.852402T>A	GRCh38
NC_000019.9:g.852402T>A , CM000681.1:g.852402T>A	GRCh37
NC_000019.8:g.803402T>A	NCBI36
NG_009627.1:g.5112T>A , LRG_57:g.5112T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.67+7T>A MANE Select	ENSP00000263621.1:n.67+7T>A
ENST00000263621.1:c.67+7T>A	ENSP00000263621.1:n.67+7T>A
ENST00000590230.5:c.67+7T>A	ENSP00000466090.1:n.67+7T>A
NM_001972.2:c.67+7T>A , LRG_57t1:c.67+7T>A	NP_001963.1:n.67+7T>A
XM_011527775.1:c.67+7T>A	XP_011526077.1:n.67+7T>A
XM_011527776.1:c.67+7T>A	XP_011526078.1:n.67+7T>A
NM_001972.3:c.67+7T>A	NP_001963.1:n.67+7T>A
NM_001972.4:c.67+7T>A MANE Select	NP_001963.1:n.67+7T>A