Canonical Allele Identifier: CA402919009
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 1008375
ClinVar RCV Id: RCV001796432
dbSNP Id: rs771710628
MyVariant Identifiers: chr19:g.856004T>A (hg19) chr19:g.856004T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856004T>A , CM000681.2:g.856004T>A GRCh38
NC_000019.9:g.856004T>A , CM000681.1:g.856004T>A GRCh37
NC_000019.8:g.807004T>A NCBI36
NG_007274.1:g.1340T>A , LRG_46:g.1340T>A
NG_009627.1:g.8714T>A , LRG_57:g.8714T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.644T>A MANE Select ENSP00000263621.1:p.Ile215Asn
ENST00000263621.1:c.644T>A ENSP00000263621.1:p.Ile215Asn
ENST00000590230.5:c.644T>A ENSP00000466090.1:p.Ile215Asn
NM_001972.2:c.644T>A , LRG_57t1:c.644T>A NP_001963.1:p.Ile215Asn
XM_011527775.1:c.644T>A XP_011526077.1:p.Ile215Asn
XM_011527776.1:c.644T>A XP_011526078.1:p.Ile215Asn
NM_001972.3:c.644T>A NP_001963.1:p.Ile215Asn
NM_001972.4:c.644T>A MANE Select NP_001963.1:p.Ile215Asn
Search 100 bp 5'
Search 100 bp 3'