Canonical Allele Identifier: CA2587804552
Gene: ELANE HGNC NCBI

Linked Data

gnomAD v4: 19-852289-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.852289G>C , CM000681.2:g.852289G>C GRCh38
NC_000019.9:g.852289G>C , CM000681.1:g.852289G>C GRCh37
NC_000019.8:g.803289G>C NCBI36
NG_009627.1:g.4999G>C , LRG_57:g.4999G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000590230.5:c.-40G>C ENSP00000466090.1:n.-40G>C
XM_011527775.1:c.-40G>C XP_011526077.1:n.-40G>C
XM_011527776.1:c.-40G>C XP_011526078.1:n.-40G>C
NM_001972.3:c.-40G>C NP_001963.1:n.-40G>C
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