Canonical Allele Identifier: CA992485937
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs2035619919
gnomAD v3: 19-853104-C-G
gnomAD v4: 19-853104-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853104C>G , CM000681.2:g.853104C>G GRCh38
NC_000019.9:g.853104C>G , CM000681.1:g.853104C>G GRCh37
NC_000019.8:g.804104C>G NCBI36
NG_009627.1:g.5814C>G , LRG_57:g.5814C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.224+72C>G MANE Select ENSP00000263621.1:n.224+72C>G
ENST00000263621.1:c.224+72C>G ENSP00000263621.1:n.224+72C>G
ENST00000590230.5:c.224+72C>G ENSP00000466090.1:n.224+72C>G
NM_001972.2:c.224+72C>G , LRG_57t1:c.224+72C>G NP_001963.1:n.224+72C>G
XM_011527775.1:c.224+72C>G XP_011526077.1:n.224+72C>G
XM_011527776.1:c.224+72C>G XP_011526078.1:n.224+72C>G
NM_001972.3:c.224+72C>G NP_001963.1:n.224+72C>G
NM_001972.4:c.224+72C>G MANE Select NP_001963.1:n.224+72C>G
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