Canonical Allele Identifier: CA10584621

Gene: ELANE

Linked Data

• ClinVar Variation Id: 245598
• ClinVar RCV Id: RCV000018226 ; RCV000236267 ; RCV001003809 ; RCV001795382 ; RCV002464151
• dbSNP Id: rs879253882
• gnomAD v4: 19-855799-G-A
• MyVariant Identifiers: chr19:g.855799G>A (hg19) ; chr19:g.855799G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855799G>A , CM000681.2:g.855799G>A	GRCh38
NC_000019.9:g.855799G>A , CM000681.1:g.855799G>A	GRCh37
NC_000019.8:g.806799G>A	NCBI36
NG_007274.1:g.1135G>A , LRG_46:g.1135G>A
NG_009627.1:g.8509G>A , LRG_57:g.8509G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.597+5G>A MANE Select	ENSP00000263621.1:n.597+5G>A
ENST00000263621.1:c.597+5G>A	ENSP00000263621.1:n.597+5G>A
ENST00000590230.5:c.597+5G>A	ENSP00000466090.1:n.597+5G>A
NM_001972.2:c.597+5G>A , LRG_57t1:c.597+5G>A	NP_001963.1:n.597+5G>A
XM_011527775.1:c.597+5G>A	XP_011526077.1:n.597+5G>A
XM_011527776.1:c.597+5G>A	XP_011526078.1:n.597+5G>A
NM_001972.3:c.597+5G>A	NP_001963.1:n.597+5G>A
NM_001972.4:c.597+5G>A MANE Select	NP_001963.1:n.597+5G>A