Canonical Allele Identifier: CA504684980

Gene: ELANE

Linked Data

• MyVariant Identifiers: chr19:g.853349C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853349C>A , CM000681.2:g.853349C>A	GRCh38
NC_000019.9:g.853349C>A , CM000681.1:g.853349C>A	GRCh37
NC_000019.8:g.804349C>A	NCBI36
NG_009627.1:g.6059C>A , LRG_57:g.6059C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.312C>A MANE Select	ENSP00000263621.1:p.Ile104=
ENST00000263621.1:c.312C>A	ENSP00000263621.1:p.Ile104=
ENST00000590230.5:c.312C>A	ENSP00000466090.1:p.Ile104=
NM_001972.2:c.312C>A , LRG_57t1:c.312C>A	NP_001963.1:p.Ile104=
XM_011527775.1:c.312C>A	XP_011526077.1:p.Ile104=
XM_011527776.1:c.312C>A	XP_011526078.1:p.Ile104=
NM_001972.3:c.312C>A	NP_001963.1:p.Ile104=
NM_001972.4:c.312C>A MANE Select	NP_001963.1:p.Ile104=