Canonical Allele Identifier: CA504686627

Gene: ELANE

Linked Data

• MyVariant Identifiers: chr19:g.856023A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.856023A>T , CM000681.2:g.856023A>T	GRCh38
NC_000019.9:g.856023A>T , CM000681.1:g.856023A>T	GRCh37
NC_000019.8:g.807023A>T	NCBI36
NG_007274.1:g.1359A>T , LRG_46:g.1359A>T
NG_009627.1:g.8733A>T , LRG_57:g.8733A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.663A>T MANE Select	ENSP00000263621.1:p.Gly221=
ENST00000263621.1:c.663A>T	ENSP00000263621.1:p.Gly221=
ENST00000590230.5:c.663A>T	ENSP00000466090.1:p.Gly221=
NM_001972.2:c.663A>T , LRG_57t1:c.663A>T	NP_001963.1:p.Gly221=
XM_011527775.1:c.663A>T	XP_011526077.1:p.Gly221=
XM_011527776.1:c.663A>T	XP_011526078.1:p.Gly221=
NM_001972.3:c.663A>T	NP_001963.1:p.Gly221=
NM_001972.4:c.663A>T MANE Select	NP_001963.1:p.Gly221=