Canonical Allele Identifier: CA402918688

Gene: ELANE

Linked Data

• gnomAD v4: 19-855757-G-T
• MyVariant Identifiers: chr19:g.855757G>T (hg19) ; chr19:g.855757G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855757G>T , CM000681.2:g.855757G>T	GRCh38
NC_000019.9:g.855757G>T , CM000681.1:g.855757G>T	GRCh37
NC_000019.8:g.806757G>T	NCBI36
NG_007274.1:g.1093G>T , LRG_46:g.1093G>T
NG_009627.1:g.8467G>T , LRG_57:g.8467G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.560G>T MANE Select	ENSP00000263621.1:p.Cys187Phe
ENST00000263621.1:c.560G>T	ENSP00000263621.1:p.Cys187Phe
ENST00000590230.5:c.560G>T	ENSP00000466090.1:p.Cys187Phe
NM_001972.2:c.560G>T , LRG_57t1:c.560G>T	NP_001963.1:p.Cys187Phe
XM_011527775.1:c.560G>T	XP_011526077.1:p.Cys187Phe
XM_011527776.1:c.560G>T	XP_011526078.1:p.Cys187Phe
NM_001972.3:c.560G>T	NP_001963.1:p.Cys187Phe
NM_001972.4:c.560G>T MANE Select	NP_001963.1:p.Cys187Phe