Canonical Allele Identifier: CA9025899

Gene: ELANE

Linked Data

• ClinVar Variation Id: 242275
• ClinVar RCV Id: RCV000227588 ; RCV001857779
• dbSNP Id: rs759486889
• ExAC: 19:852350 G / A
• gnomAD v2: 19-852350-G-A
• gnomAD v3: 19-852350-G-A
• gnomAD v4: 19-852350-G-A
• MyVariant Identifiers: chr19:g.852350G>A (hg19) ; chr19:g.852350G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.852350G>A , CM000681.2:g.852350G>A	GRCh38
NC_000019.9:g.852350G>A , CM000681.1:g.852350G>A	GRCh37
NC_000019.8:g.803350G>A	NCBI36
NG_009627.1:g.5060G>A , LRG_57:g.5060G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.22G>A MANE Select	ENSP00000263621.1:p.Ala8Thr
ENST00000263621.1:c.22G>A	ENSP00000263621.1:p.Ala8Thr
ENST00000590230.5:c.22G>A	ENSP00000466090.1:p.Ala8Thr
NM_001972.2:c.22G>A , LRG_57t1:c.22G>A	NP_001963.1:p.Ala8Thr
XM_011527775.1:c.22G>A	XP_011526077.1:p.Ala8Thr
XM_011527776.1:c.22G>A	XP_011526078.1:p.Ala8Thr
NM_001972.3:c.22G>A	NP_001963.1:p.Ala8Thr
NM_001972.4:c.22G>A MANE Select	NP_001963.1:p.Ala8Thr