Canonical Allele Identifier: CA992485867
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs528965380
gnomAD v3: 19-853078-G-T
gnomAD v4: 19-853078-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853078G>T , CM000681.2:g.853078G>T GRCh38
NC_000019.9:g.853078G>T , CM000681.1:g.853078G>T GRCh37
NC_000019.8:g.804078G>T NCBI36
NG_009627.1:g.5788G>T , LRG_57:g.5788G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.224+46G>T MANE Select ENSP00000263621.1:n.224+46G>T
ENST00000263621.1:c.224+46G>T ENSP00000263621.1:n.224+46G>T
ENST00000590230.5:c.224+46G>T ENSP00000466090.1:n.224+46G>T
NM_001972.2:c.224+46G>T , LRG_57t1:c.224+46G>T NP_001963.1:n.224+46G>T
XM_011527775.1:c.224+46G>T XP_011526077.1:n.224+46G>T
XM_011527776.1:c.224+46G>T XP_011526078.1:n.224+46G>T
NM_001972.3:c.224+46G>T NP_001963.1:n.224+46G>T
NM_001972.4:c.224+46G>T MANE Select NP_001963.1:n.224+46G>T