Canonical Allele Identifier: CA2587805557
Gene: ELANE HGNC NCBI

Linked Data

gnomAD v4: 19-856247-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856247T>A , CM000681.2:g.856247T>A GRCh38
NC_000019.9:g.856247T>A , CM000681.1:g.856247T>A GRCh37
NC_000019.8:g.807247T>A NCBI36
NG_007274.1:g.1583T>A , LRG_46:g.1583T>A
NG_009627.1:g.8957T>A , LRG_57:g.8957T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000590230.5:c.*83T>A ENSP00000466090.1:n.*83T>A
XM_011527775.1:c.*83T>A XP_011526077.1:n.*83T>A
XM_011527776.1:c.*83T>A XP_011526078.1:n.*83T>A
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