Canonical Allele Identifier: CA402919393
Gene: ELANE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856109A>T , CM000681.2:g.856109A>T GRCh38
NC_000019.9:g.856109A>T , CM000681.1:g.856109A>T GRCh37
NC_000019.8:g.807109A>T NCBI36
NG_007274.1:g.1445A>T , LRG_46:g.1445A>T
NG_009627.1:g.8819A>T , LRG_57:g.8819A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.749A>T MANE Select ENSP00000263621.1:p.Glu250Val
ENST00000263621.1:c.749A>T ENSP00000263621.1:p.Glu250Val
ENST00000590230.5:c.749A>T ENSP00000466090.1:p.Glu250Val
NM_001972.2:c.749A>T , LRG_57t1:c.749A>T NP_001963.1:p.Glu250Val
XM_011527775.1:c.749A>T XP_011526077.1:p.Glu250Val
XM_011527776.1:c.749A>T XP_011526078.1:p.Glu250Val
NM_001972.3:c.749A>T NP_001963.1:p.Glu250Val
NM_001972.4:c.749A>T MANE Select NP_001963.1:p.Glu250Val