Canonical Allele Identifier: CA281055

Gene: ELANE

Linked Data

• ClinVar Variation Id: 16745
• ClinVar RCV Id: RCV000018229 ; RCV000508432 ; RCV000990116
• dbSNP Id: rs137854450
• gnomAD v4: 19-855574-C-T
• MyVariant Identifiers: chr19:g.855574C>T (hg19) ; chr19:g.855574C>T (hg38)
• PubMed: PMID:11675333 ; PMID:18028488

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855574C>T , CM000681.2:g.855574C>T	GRCh38
NC_000019.9:g.855574C>T , CM000681.1:g.855574C>T	GRCh37
NC_000019.8:g.806574C>T	NCBI36
NG_007274.1:g.910C>T , LRG_46:g.910C>T
NG_009627.1:g.8284C>T , LRG_57:g.8284C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.377C>T MANE Select	ENSP00000263621.1:p.Ser126Leu
ENST00000263621.1:c.377C>T	ENSP00000263621.1:p.Ser126Leu
ENST00000590230.5:c.377C>T	ENSP00000466090.1:p.Ser126Leu
NM_001972.2:c.377C>T , LRG_57t1:c.377C>T	NP_001963.1:p.Ser126Leu
XM_011527775.1:c.377C>T	XP_011526077.1:p.Ser126Leu
XM_011527776.1:c.377C>T	XP_011526078.1:p.Ser126Leu
NM_001972.3:c.377C>T	NP_001963.1:p.Ser126Leu
NM_001972.4:c.377C>T MANE Select	NP_001963.1:p.Ser126Leu