Canonical Allele Identifier: CA2317361749
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs2035680747
gnomAD v4: 19-856250-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856250G>T , CM000681.2:g.856250G>T GRCh38
NC_000019.9:g.856250G>T , CM000681.1:g.856250G>T GRCh37
NC_000019.8:g.807250G>T NCBI36
NG_007274.1:g.1586G>T , LRG_46:g.1586G>T
NG_009627.1:g.8960G>T , LRG_57:g.8960G>T

Transcript Alleles

HGVS Amino-acid Change
XM_011527775.1:c.*86G>T XP_011526077.1:n.*86G>T
XM_011527776.1:c.*86G>T XP_011526078.1:n.*86G>T
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