Canonical Allele Identifier: CA303943280
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 2060963
ClinVar RCV Id: RCV002948126
dbSNP Id: rs549887145
gnomAD v2: 19-853335-G-T
gnomAD v3: 19-853335-G-T
gnomAD v4: 19-853335-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853335G>T , CM000681.2:g.853335G>T GRCh38
NC_000019.9:g.853335G>T , CM000681.1:g.853335G>T GRCh37
NC_000019.8:g.804335G>T NCBI36
NG_009627.1:g.6045G>T , LRG_57:g.6045G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.298G>T MANE Select ENSP00000263621.1:p.Ala100Ser
ENST00000263621.1:c.298G>T ENSP00000263621.1:p.Ala100Ser
ENST00000590230.5:c.298G>T ENSP00000466090.1:p.Ala100Ser
NM_001972.2:c.298G>T , LRG_57t1:c.298G>T NP_001963.1:p.Ala100Ser
XM_011527775.1:c.298G>T XP_011526077.1:p.Ala100Ser
XM_011527776.1:c.298G>T XP_011526078.1:p.Ala100Ser
NM_001972.3:c.298G>T NP_001963.1:p.Ala100Ser
NM_001972.4:c.298G>T MANE Select NP_001963.1:p.Ala100Ser