Canonical Allele Identifier: CA2587805548

Gene: ELANE

Linked Data

• gnomAD v4: 19-856235-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.856235T>G , CM000681.2:g.856235T>G	GRCh38
NC_000019.9:g.856235T>G , CM000681.1:g.856235T>G	GRCh37
NC_000019.8:g.807235T>G	NCBI36
NG_007274.1:g.1571T>G , LRG_46:g.1571T>G
NG_009627.1:g.8945T>G , LRG_57:g.8945T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.*71T>G MANE Select	ENSP00000263621.1:n.*71T>G
ENST00000263621.1:c.*71T>G	ENSP00000263621.1:n.*71T>G
ENST00000590230.5:c.*71T>G	ENSP00000466090.1:n.*71T>G
NM_001972.2:c.*71T>G , LRG_57t1:c.*71T>G	NP_001963.1:n.*71T>G
XM_011527775.1:c.*71T>G	XP_011526077.1:n.*71T>G
XM_011527776.1:c.*71T>G	XP_011526078.1:n.*71T>G
NM_001972.3:c.*71T>G	NP_001963.1:n.*71T>G
NM_001972.4:c.*71T>G MANE Select	NP_001963.1:n.*71T>G