Canonical Allele Identifier: CA504684843

Gene: ELANE

Linked Data

• ClinVar Variation Id: 1387976
• ClinVar RCV Id: RCV001875711
• dbSNP Id: rs1158107493
• gnomAD v2: 19-853274-G-T
• gnomAD v4: 19-853274-G-T
• MyVariant Identifiers: chr19:g.853274G>T (hg19) ; chr19:g.853274G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853274G>T , CM000681.2:g.853274G>T	GRCh38
NC_000019.9:g.853274G>T , CM000681.1:g.853274G>T	GRCh37
NC_000019.8:g.804274G>T	NCBI36
NG_009627.1:g.5984G>T , LRG_57:g.5984G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.237G>T MANE Select	ENSP00000263621.1:p.Ala79=
ENST00000263621.1:c.237G>T	ENSP00000263621.1:p.Ala79=
ENST00000590230.5:c.237G>T	ENSP00000466090.1:p.Ala79=
NM_001972.2:c.237G>T , LRG_57t1:c.237G>T	NP_001963.1:p.Ala79=
XM_011527775.1:c.237G>T	XP_011526077.1:p.Ala79=
XM_011527776.1:c.237G>T	XP_011526078.1:p.Ala79=
NM_001972.3:c.237G>T	NP_001963.1:p.Ala79=
NM_001972.4:c.237G>T MANE Select	NP_001963.1:p.Ala79=