Canonical Allele Identifier: CA2576540532

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.856181C>A , CM000681.2:g.856181C>A	GRCh38
NC_000019.9:g.856181C>A , CM000681.1:g.856181C>A	GRCh37
NC_000019.8:g.807181C>A	NCBI36
NG_007274.1:g.1517C>A , LRG_46:g.1517C>A
NG_009627.1:g.8891C>A , LRG_57:g.8891C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.*17C>A MANE Select	ENSP00000263621.1:n.*17C>A
ENST00000263621.1:c.*17C>A	ENSP00000263621.1:n.*17C>A
ENST00000590230.5:c.*17C>A	ENSP00000466090.1:n.*17C>A
NM_001972.2:c.*17C>A , LRG_57t1:c.*17C>A	NP_001963.1:n.*17C>A
XM_011527775.1:c.*17C>A	XP_011526077.1:n.*17C>A
XM_011527776.1:c.*17C>A	XP_011526078.1:n.*17C>A
NM_001972.3:c.*17C>A	NP_001963.1:n.*17C>A
NM_001972.4:c.*17C>A MANE Select	NP_001963.1:n.*17C>A