Canonical Allele Identifier: CA402919193
Gene: ELANE HGNC NCBI

Linked Data

COSMIC: COSM302124
MyVariant Identifiers: chr19:g.856057G>A (hg19) chr19:g.856057G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856057G>A , CM000681.2:g.856057G>A GRCh38
NC_000019.9:g.856057G>A , CM000681.1:g.856057G>A GRCh37
NC_000019.8:g.807057G>A NCBI36
NG_007274.1:g.1393G>A , LRG_46:g.1393G>A
NG_009627.1:g.8767G>A , LRG_57:g.8767G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.697G>A MANE Select ENSP00000263621.1:p.Ala233Thr
ENST00000263621.1:c.697G>A ENSP00000263621.1:p.Ala233Thr
ENST00000590230.5:c.697G>A ENSP00000466090.1:p.Ala233Thr
NM_001972.2:c.697G>A , LRG_57t1:c.697G>A NP_001963.1:p.Ala233Thr
XM_011527775.1:c.697G>A XP_011526077.1:p.Ala233Thr
XM_011527776.1:c.697G>A XP_011526078.1:p.Ala233Thr
NM_001972.3:c.697G>A NP_001963.1:p.Ala233Thr
NM_001972.4:c.697G>A MANE Select NP_001963.1:p.Ala233Thr
Search 100 bp 5'
Search 100 bp 3'