Canonical Allele Identifier: CA2317361319
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs199867802
gnomAD v4: 19-855534-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855534C>G , CM000681.2:g.855534C>G GRCh38
NC_000019.9:g.855534C>G , CM000681.1:g.855534C>G GRCh37
NC_000019.8:g.806534C>G NCBI36
NG_007274.1:g.870C>G , LRG_46:g.870C>G
NG_009627.1:g.8244C>G , LRG_57:g.8244C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.367-30C>G MANE Select ENSP00000263621.1:n.367-30C>G
ENST00000263621.1:c.367-30C>G ENSP00000263621.1:n.367-30C>G
ENST00000590230.5:c.367-30C>G ENSP00000466090.1:n.367-30C>G
NM_001972.2:c.367-30C>G , LRG_57t1:c.367-30C>G NP_001963.1:n.367-30C>G
XM_011527775.1:c.367-30C>G XP_011526077.1:n.367-30C>G
XM_011527776.1:c.367-30C>G XP_011526078.1:n.367-30C>G
NM_001972.3:c.367-30C>G NP_001963.1:n.367-30C>G
NM_001972.4:c.367-30C>G MANE Select NP_001963.1:n.367-30C>G
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