Canonical Allele Identifier: CA631295764
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs1358836228
gnomAD v2: 19-853229-C-A
gnomAD v3: 19-853229-C-A
gnomAD v4: 19-853229-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853229C>A , CM000681.2:g.853229C>A GRCh38
NC_000019.9:g.853229C>A , CM000681.1:g.853229C>A GRCh37
NC_000019.8:g.804229C>A NCBI36
NG_009627.1:g.5939C>A , LRG_57:g.5939C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.225-33C>A MANE Select ENSP00000263621.1:n.225-33C>A
ENST00000263621.1:c.225-33C>A ENSP00000263621.1:n.225-33C>A
ENST00000590230.5:c.225-33C>A ENSP00000466090.1:n.225-33C>A
NM_001972.2:c.225-33C>A , LRG_57t1:c.225-33C>A NP_001963.1:n.225-33C>A
XM_011527775.1:c.225-33C>A XP_011526077.1:n.225-33C>A
XM_011527776.1:c.225-33C>A XP_011526078.1:n.225-33C>A
NM_001972.3:c.225-33C>A NP_001963.1:n.225-33C>A
NM_001972.4:c.225-33C>A MANE Select NP_001963.1:n.225-33C>A