Canonical Allele Identifier: CA504684684

Gene: ELANE

Linked Data

• gnomAD v4: 19-852928-G-T
• MyVariant Identifiers: chr19:g.852928G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.852928G>T , CM000681.2:g.852928G>T	GRCh38
NC_000019.9:g.852928G>T , CM000681.1:g.852928G>T	GRCh37
NC_000019.8:g.803928G>T	NCBI36
NG_009627.1:g.5638G>T , LRG_57:g.5638G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.120G>T MANE Select	ENSP00000263621.1:p.Ala40=
ENST00000263621.1:c.120G>T	ENSP00000263621.1:p.Ala40=
ENST00000590230.5:c.120G>T	ENSP00000466090.1:p.Ala40=
NM_001972.2:c.120G>T , LRG_57t1:c.120G>T	NP_001963.1:p.Ala40=
XM_011527775.1:c.120G>T	XP_011526077.1:p.Ala40=
XM_011527776.1:c.120G>T	XP_011526078.1:p.Ala40=
NM_001972.3:c.120G>T	NP_001963.1:p.Ala40=
NM_001972.4:c.120G>T MANE Select	NP_001963.1:p.Ala40=