Canonical Allele Identifier: CA2317361318

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855533A= , CM000681.2:g.855533A=	GRCh38
NC_000019.9:g.855533A= , CM000681.1:g.855533A=	GRCh37
NC_000019.8:g.806533A=	NCBI36
NG_007274.1:g.869A= , LRG_46:g.869A=
NG_009627.1:g.8243A= , LRG_57:g.8243A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.367-31A= MANE Select	ENSP00000263621.1:n.367-31A=
ENST00000263621.1:c.367-31A=	ENSP00000263621.1:n.367-31A=
ENST00000590230.5:c.367-31A=	ENSP00000466090.1:n.367-31A=
NM_001972.2:c.367-31A= , LRG_57t1:c.367-31A=	NP_001963.1:n.367-31A=
XM_011527775.1:c.367-31A=	XP_011526077.1:n.367-31A=
XM_011527776.1:c.367-31A=	XP_011526078.1:n.367-31A=
NM_001972.3:c.367-31A=	NP_001963.1:n.367-31A=
NM_001972.4:c.367-31A= MANE Select	NP_001963.1:n.367-31A=