Canonical Allele Identifier: CA10583959
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 242277
ClinVar RCV Id: RCV000234442
dbSNP Id: rs878855314
gnomAD v2: 19-852885-T-C
gnomAD v4: 19-852885-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.852885T>C , CM000681.2:g.852885T>C GRCh38
NC_000019.9:g.852885T>C , CM000681.1:g.852885T>C GRCh37
NC_000019.8:g.803885T>C NCBI36
NG_009627.1:g.5595T>C , LRG_57:g.5595T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.77T>C MANE Select ENSP00000263621.1:p.Leu26Pro
ENST00000263621.1:c.77T>C ENSP00000263621.1:p.Leu26Pro
ENST00000590230.5:c.77T>C ENSP00000466090.1:p.Leu26Pro
NM_001972.2:c.77T>C , LRG_57t1:c.77T>C NP_001963.1:p.Leu26Pro
XM_011527775.1:c.77T>C XP_011526077.1:p.Leu26Pro
XM_011527776.1:c.77T>C XP_011526078.1:p.Leu26Pro
NM_001972.3:c.77T>C NP_001963.1:p.Leu26Pro
NM_001972.4:c.77T>C MANE Select NP_001963.1:p.Leu26Pro