Canonical Allele Identifier: CA402915129
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 2542246
ClinVar RCV Id: RCV003282178 RCV003779972
dbSNP Id: rs769123461
gnomAD v2: 19-853272-G-A
gnomAD v4: 19-853272-G-A
MyVariant Identifiers: chr19:g.853272G>A (hg19) chr19:g.853272G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853272G>A , CM000681.2:g.853272G>A GRCh38
NC_000019.9:g.853272G>A , CM000681.1:g.853272G>A GRCh37
NC_000019.8:g.804272G>A NCBI36
NG_009627.1:g.5982G>A , LRG_57:g.5982G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.235G>A MANE Select ENSP00000263621.1:p.Ala79Thr
ENST00000263621.1:c.235G>A ENSP00000263621.1:p.Ala79Thr
ENST00000590230.5:c.235G>A ENSP00000466090.1:p.Ala79Thr
NM_001972.2:c.235G>A , LRG_57t1:c.235G>A NP_001963.1:p.Ala79Thr
XM_011527775.1:c.235G>A XP_011526077.1:p.Ala79Thr
XM_011527776.1:c.235G>A XP_011526078.1:p.Ala79Thr
NM_001972.3:c.235G>A NP_001963.1:p.Ala79Thr
NM_001972.4:c.235G>A MANE Select NP_001963.1:p.Ala79Thr
Search 100 bp 5'
Search 100 bp 3'