Canonical Allele Identifier: CA2317361575

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855922C= , CM000681.2:g.855922C=	GRCh38
NC_000019.9:g.855922C= , CM000681.1:g.855922C=	GRCh37
NC_000019.8:g.806922C=	NCBI36
NG_007274.1:g.1258C= , LRG_46:g.1258C=
NG_009627.1:g.8632C= , LRG_57:g.8632C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.598-36C= MANE Select	ENSP00000263621.1:n.598-36C=
ENST00000263621.1:c.598-36C=	ENSP00000263621.1:n.598-36C=
ENST00000590230.5:c.598-36C=	ENSP00000466090.1:n.598-36C=
NM_001972.2:c.598-36C= , LRG_57t1:c.598-36C=	NP_001963.1:n.598-36C=
XM_011527775.1:c.598-36C=	XP_011526077.1:n.598-36C=
XM_011527776.1:c.598-36C=	XP_011526078.1:n.598-36C=
NM_001972.3:c.598-36C=	NP_001963.1:n.598-36C=
NM_001972.4:c.598-36C= MANE Select	NP_001963.1:n.598-36C=