Canonical Allele Identifier: CA402914413
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 2480707
ClinVar RCV Id: RCV003214235
dbSNP Id: rs1378830851
gnomAD v2: 19-852920-C-A
gnomAD v3: 19-852920-C-A
gnomAD v4: 19-852920-C-A
MyVariant Identifiers: chr19:g.852920C>A (hg19) chr19:g.852920C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.852920C>A , CM000681.2:g.852920C>A GRCh38
NC_000019.9:g.852920C>A , CM000681.1:g.852920C>A GRCh37
NC_000019.8:g.803920C>A NCBI36
NG_009627.1:g.5630C>A , LRG_57:g.5630C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.112C>A MANE Select ENSP00000263621.1:p.Pro38Thr
ENST00000263621.1:c.112C>A ENSP00000263621.1:p.Pro38Thr
ENST00000590230.5:c.112C>A ENSP00000466090.1:p.Pro38Thr
NM_001972.2:c.112C>A , LRG_57t1:c.112C>A NP_001963.1:p.Pro38Thr
XM_011527775.1:c.112C>A XP_011526077.1:p.Pro38Thr
XM_011527776.1:c.112C>A XP_011526078.1:p.Pro38Thr
NM_001972.3:c.112C>A NP_001963.1:p.Pro38Thr
NM_001972.4:c.112C>A MANE Select NP_001963.1:p.Pro38Thr
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