Canonical Allele Identifier: CA2317360125

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.852950C= , CM000681.2:g.852950C=	GRCh38
NC_000019.9:g.852950C= , CM000681.1:g.852950C=	GRCh37
NC_000019.8:g.803950C=	NCBI36
NG_009627.1:g.5660C= , LRG_57:g.5660C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.142C= MANE Select	ENSP00000263621.1:p.Gln48=
ENST00000263621.1:c.142C=	ENSP00000263621.1:p.Gln48=
ENST00000590230.5:c.142C=	ENSP00000466090.1:p.Gln48=
NM_001972.2:c.142C= , LRG_57t1:c.142C=	NP_001963.1:p.Gln48=
XM_011527775.1:c.142C=	XP_011526077.1:p.Gln48=
XM_011527776.1:c.142C=	XP_011526078.1:p.Gln48=
NM_001972.3:c.142C=	NP_001963.1:p.Gln48=
NM_001972.4:c.142C= MANE Select	NP_001963.1:p.Gln48=