Canonical Allele Identifier: CA9025989

Gene: ELANE

Linked Data

• ClinVar Variation Id: 514379
• ClinVar RCV Id: RCV000611383
• dbSNP Id: rs753965718
• ExAC: 19:853305 T / C
• gnomAD v2: 19-853305-T-C
• gnomAD v3: 19-853305-T-C
• gnomAD v4: 19-853305-T-C
• MyVariant Identifiers: chr19:g.853305T>C (hg19) ; chr19:g.853305T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853305T>C , CM000681.2:g.853305T>C	GRCh38
NC_000019.9:g.853305T>C , CM000681.1:g.853305T>C	GRCh37
NC_000019.8:g.804305T>C	NCBI36
NG_009627.1:g.6015T>C , LRG_57:g.6015T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.268T>C MANE Select	ENSP00000263621.1:p.Ser90Pro
ENST00000263621.1:c.268T>C	ENSP00000263621.1:p.Ser90Pro
ENST00000590230.5:c.268T>C	ENSP00000466090.1:p.Ser90Pro
NM_001972.2:c.268T>C , LRG_57t1:c.268T>C	NP_001963.1:p.Ser90Pro
XM_011527775.1:c.268T>C	XP_011526077.1:p.Ser90Pro
XM_011527776.1:c.268T>C	XP_011526078.1:p.Ser90Pro
NM_001972.3:c.268T>C	NP_001963.1:p.Ser90Pro
NM_001972.4:c.268T>C MANE Select	NP_001963.1:p.Ser90Pro