Canonical Allele Identifier: CA631295744
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs1414356913
gnomAD v2: 19-853087-G-A
gnomAD v4: 19-853087-G-A
MyVariant Identifiers: chr19:g.853087G>A (hg19) chr19:g.853087G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853087G>A , CM000681.2:g.853087G>A GRCh38
NC_000019.9:g.853087G>A , CM000681.1:g.853087G>A GRCh37
NC_000019.8:g.804087G>A NCBI36
NG_009627.1:g.5797G>A , LRG_57:g.5797G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.224+55G>A MANE Select ENSP00000263621.1:n.224+55G>A
ENST00000263621.1:c.224+55G>A ENSP00000263621.1:n.224+55G>A
ENST00000590230.5:c.224+55G>A ENSP00000466090.1:n.224+55G>A
NM_001972.2:c.224+55G>A , LRG_57t1:c.224+55G>A NP_001963.1:n.224+55G>A
XM_011527775.1:c.224+55G>A XP_011526077.1:n.224+55G>A
XM_011527776.1:c.224+55G>A XP_011526078.1:n.224+55G>A
NM_001972.3:c.224+55G>A NP_001963.1:n.224+55G>A
NM_001972.4:c.224+55G>A MANE Select NP_001963.1:n.224+55G>A
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