Canonical Allele Identifier: CA402914480

Gene: ELANE

Linked Data

• gnomAD v4: 19-852933-C-T
• MyVariant Identifiers: chr19:g.852933C>T (hg19) ; chr19:g.852933C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.852933C>T , CM000681.2:g.852933C>T	GRCh38
NC_000019.9:g.852933C>T , CM000681.1:g.852933C>T	GRCh37
NC_000019.8:g.803933C>T	NCBI36
NG_009627.1:g.5643C>T , LRG_57:g.5643C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.125C>T MANE Select	ENSP00000263621.1:p.Pro42Leu
ENST00000263621.1:c.125C>T	ENSP00000263621.1:p.Pro42Leu
ENST00000590230.5:c.125C>T	ENSP00000466090.1:p.Pro42Leu
NM_001972.2:c.125C>T , LRG_57t1:c.125C>T	NP_001963.1:p.Pro42Leu
XM_011527775.1:c.125C>T	XP_011526077.1:p.Pro42Leu
XM_011527776.1:c.125C>T	XP_011526078.1:p.Pro42Leu
NM_001972.3:c.125C>T	NP_001963.1:p.Pro42Leu
NM_001972.4:c.125C>T MANE Select	NP_001963.1:p.Pro42Leu