Canonical Allele Identifier: CA402915219
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 836562
ClinVar RCV Id: RCV001796346
dbSNP Id: rs1405536870

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853290G>A , CM000681.2:g.853290G>A GRCh38
NC_000019.9:g.853290G>A , CM000681.1:g.853290G>A GRCh37
NC_000019.8:g.804290G>A NCBI36
NG_009627.1:g.6000G>A , LRG_57:g.6000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.253G>A MANE Select ENSP00000263621.1:p.Gly85Arg
ENST00000263621.1:c.253G>A ENSP00000263621.1:p.Gly85Arg
ENST00000590230.5:c.253G>A ENSP00000466090.1:p.Gly85Arg
NM_001972.2:c.253G>A , LRG_57t1:c.253G>A NP_001963.1:p.Gly85Arg
XM_011527775.1:c.253G>A XP_011526077.1:p.Gly85Arg
XM_011527776.1:c.253G>A XP_011526078.1:p.Gly85Arg
NM_001972.3:c.253G>A NP_001963.1:p.Gly85Arg
NM_001972.4:c.253G>A MANE Select NP_001963.1:p.Gly85Arg