Canonical Allele Identifier: CA645373216

Gene: ELANE

Linked Data

• ClinVar Variation Id: 435052
• ClinVar RCV Id: RCV000499469
• dbSNP Id: rs1380161253
• gnomAD v4: 19-852864-G-T
• MyVariant Identifiers: chr19:g.852864G>T (hg19) ; chr19:g.852864G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.852864G>T , CM000681.2:g.852864G>T	GRCh38
NC_000019.9:g.852864G>T , CM000681.1:g.852864G>T	GRCh37
NC_000019.8:g.803864G>T	NCBI36
NG_009627.1:g.5574G>T , LRG_57:g.5574G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.68-12G>T MANE Select	ENSP00000263621.1:n.68-12G>T
ENST00000263621.1:c.68-12G>T	ENSP00000263621.1:n.68-12G>T
ENST00000590230.5:c.68-12G>T	ENSP00000466090.1:n.68-12G>T
NM_001972.2:c.68-12G>T , LRG_57t1:c.68-12G>T	NP_001963.1:n.68-12G>T
XM_011527775.1:c.68-12G>T	XP_011526077.1:n.68-12G>T
XM_011527776.1:c.68-12G>T	XP_011526078.1:n.68-12G>T
NM_001972.3:c.68-12G>T	NP_001963.1:n.68-12G>T
NM_001972.4:c.68-12G>T MANE Select	NP_001963.1:n.68-12G>T