Canonical Allele Identifier: CA2317359490
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs2035604880
gnomAD v4: 19-852280-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.852280G>A , CM000681.2:g.852280G>A GRCh38
NC_000019.9:g.852280G>A , CM000681.1:g.852280G>A GRCh37
NC_000019.8:g.803280G>A NCBI36
NG_009627.1:g.4990G>A , LRG_57:g.4990G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000590230.5:c.-49G>A ENSP00000466090.1:n.-49G>A
XM_011527775.1:c.-49G>A XP_011526077.1:n.-49G>A
XM_011527776.1:c.-49G>A XP_011526078.1:n.-49G>A
NM_001972.3:c.-49G>A NP_001963.1:n.-49G>A
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