Canonical Allele Identifier: CA992486048
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs981872389
gnomAD v3: 19-853222-C-A
gnomAD v4: 19-853222-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853222C>A , CM000681.2:g.853222C>A GRCh38
NC_000019.9:g.853222C>A , CM000681.1:g.853222C>A GRCh37
NC_000019.8:g.804222C>A NCBI36
NG_009627.1:g.5932C>A , LRG_57:g.5932C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.225-40C>A MANE Select ENSP00000263621.1:n.225-40C>A
ENST00000263621.1:c.225-40C>A ENSP00000263621.1:n.225-40C>A
ENST00000590230.5:c.225-40C>A ENSP00000466090.1:n.225-40C>A
NM_001972.2:c.225-40C>A , LRG_57t1:c.225-40C>A NP_001963.1:n.225-40C>A
XM_011527775.1:c.225-40C>A XP_011526077.1:n.225-40C>A
XM_011527776.1:c.225-40C>A XP_011526078.1:n.225-40C>A
NM_001972.3:c.225-40C>A NP_001963.1:n.225-40C>A
NM_001972.4:c.225-40C>A MANE Select NP_001963.1:n.225-40C>A
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