Canonical Allele Identifier: CA992487298
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs2035662360
gnomAD v3: 19-855528-G-A
gnomAD v4: 19-855528-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855528G>A , CM000681.2:g.855528G>A GRCh38
NC_000019.9:g.855528G>A , CM000681.1:g.855528G>A GRCh37
NC_000019.8:g.806528G>A NCBI36
NG_007274.1:g.864G>A , LRG_46:g.864G>A
NG_009627.1:g.8238G>A , LRG_57:g.8238G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.367-36G>A MANE Select ENSP00000263621.1:n.367-36G>A
ENST00000263621.1:c.367-36G>A ENSP00000263621.1:n.367-36G>A
ENST00000590230.5:c.367-36G>A ENSP00000466090.1:n.367-36G>A
NM_001972.2:c.367-36G>A , LRG_57t1:c.367-36G>A NP_001963.1:n.367-36G>A
XM_011527775.1:c.367-36G>A XP_011526077.1:n.367-36G>A
XM_011527776.1:c.367-36G>A XP_011526078.1:n.367-36G>A
NM_001972.3:c.367-36G>A NP_001963.1:n.367-36G>A
NM_001972.4:c.367-36G>A MANE Select NP_001963.1:n.367-36G>A
Search 100 bp 5'
Search 100 bp 3'