Canonical Allele Identifier: CA084432
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 16747
ClinVar RCV Id: RCV000018231

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.[853329G>T;853338G>T] , CM000681.2:g.[853329G>T;853338G>T] GRCh38
NC_000019.9:g.[853329G>T;853338G>T] , CM000681.1:g.[853329G>T;853338G>T] GRCh37
NC_000019.8:g.[804329G>T;804338G>T] NCBI36
NG_009627.1:g.[6039G>T;6048G>T] , LRG_57:g.[6039G>T;6048G>T]

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.[292G>T;301G>T] MANE Select ENSP00000263621.1:p.[Val98Leu;Val101Leu]
ENST00000263621.1:c.[292G>T;301G>T] ENSP00000263621.1:p.[Val98Leu;Val101Leu]
ENST00000590230.5:c.[292G>T;301G>T] ENSP00000466090.1:p.[Val98Leu;Val101Leu]
NM_001972.2:c.[292G>T;301G>T] , LRG_57t1:c.[292G>T;301G>T] NP_001963.1:p.[Val98Leu;Val101Leu]
XM_011527775.1:c.[292G>T;301G>T] XP_011526077.1:p.[Val98Leu;Val101Leu]
XM_011527776.1:c.[292G>T;301G>T] XP_011526078.1:p.[Val98Leu;Val101Leu]
NM_001972.3:c.[292G>T;301G>T] NP_001963.1:p.[Val98Leu;Val101Leu]
NM_001972.4:c.[292G>T;301G>T] MANE Select NP_001963.1:p.[Val98Leu;Val101Leu]