Canonical Allele Identifier: CA2587805559
Gene: ELANE HGNC NCBI

Linked Data

gnomAD v4: 19-856249-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856249T>G , CM000681.2:g.856249T>G GRCh38
NC_000019.9:g.856249T>G , CM000681.1:g.856249T>G GRCh37
NC_000019.8:g.807249T>G NCBI36
NG_007274.1:g.1585T>G , LRG_46:g.1585T>G
NG_009627.1:g.8959T>G , LRG_57:g.8959T>G

Transcript Alleles

HGVS Amino-acid Change
XM_011527775.1:c.*85T>G XP_011526077.1:n.*85T>G
XM_011527776.1:c.*85T>G XP_011526078.1:n.*85T>G