Canonical Allele Identifier: CA2317361744

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.856240T= , CM000681.2:g.856240T=	GRCh38
NC_000019.9:g.856240T= , CM000681.1:g.856240T=	GRCh37
NC_000019.8:g.807240T=	NCBI36
NG_007274.1:g.1576T= , LRG_46:g.1576T=
NG_009627.1:g.8950T= , LRG_57:g.8950T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.*76T= MANE Select	ENSP00000263621.1:n.*76T=
ENST00000263621.1:c.*76T=	ENSP00000263621.1:n.*76T=
ENST00000590230.5:c.*76T=	ENSP00000466090.1:n.*76T=
NM_001972.2:c.*76T= , LRG_57t1:c.*76T=	NP_001963.1:n.*76T=
XM_011527775.1:c.*76T=	XP_011526077.1:n.*76T=
XM_011527776.1:c.*76T=	XP_011526078.1:n.*76T=
NM_001972.3:c.*76T=	NP_001963.1:n.*76T=
NM_001972.4:c.*76T= MANE Select	NP_001963.1:n.*76T=