Canonical Allele Identifier: CA402918904

Gene: ELANE

Linked Data

• ClinVar Variation Id: 495228
• ClinVar RCV Id: RCV000585894
• dbSNP Id: rs1555710077
• MyVariant Identifiers: chr19:g.855974C>G (hg19) ; chr19:g.855974C>G (hg38)
• PubMed: PMID:29572239

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855974C>G , CM000681.2:g.855974C>G	GRCh38
NC_000019.9:g.855974C>G , CM000681.1:g.855974C>G	GRCh37
NC_000019.8:g.806974C>G	NCBI36
NG_007274.1:g.1310C>G , LRG_46:g.1310C>G
NG_009627.1:g.8684C>G , LRG_57:g.8684C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.614C>G MANE Select	ENSP00000263621.1:p.Pro205Arg
ENST00000263621.1:c.614C>G	ENSP00000263621.1:p.Pro205Arg
ENST00000590230.5:c.614C>G	ENSP00000466090.1:p.Pro205Arg
NM_001972.2:c.614C>G , LRG_57t1:c.614C>G	NP_001963.1:p.Pro205Arg
XM_011527775.1:c.614C>G	XP_011526077.1:p.Pro205Arg
XM_011527776.1:c.614C>G	XP_011526078.1:p.Pro205Arg
NM_001972.3:c.614C>G	NP_001963.1:p.Pro205Arg
NM_001972.4:c.614C>G MANE Select	NP_001963.1:p.Pro205Arg