Canonical Allele Identifier: CA16620912
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 418179
dbSNP Id: rs1064793108

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853288T>C , CM000681.2:g.853288T>C GRCh38
NC_000019.9:g.853288T>C , CM000681.1:g.853288T>C GRCh37
NC_000019.8:g.804288T>C NCBI36
NG_009627.1:g.5998T>C , LRG_57:g.5998T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.251T>C MANE Select ENSP00000263621.1:p.Leu84Pro
ENST00000263621.1:c.251T>C ENSP00000263621.1:p.Leu84Pro
ENST00000590230.5:c.251T>C ENSP00000466090.1:p.Leu84Pro
NM_001972.2:c.251T>C , LRG_57t1:c.251T>C NP_001963.1:p.Leu84Pro
XM_011527775.1:c.251T>C XP_011526077.1:p.Leu84Pro
XM_011527776.1:c.251T>C XP_011526078.1:p.Leu84Pro
NM_001972.3:c.251T>C NP_001963.1:p.Leu84Pro
NM_001972.4:c.251T>C MANE Select NP_001963.1:p.Leu84Pro