Canonical Allele Identifier: CA2576540503
Gene: ELANE HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855524C>A , CM000681.2:g.855524C>A GRCh38
NC_000019.9:g.855524C>A , CM000681.1:g.855524C>A GRCh37
NC_000019.8:g.806524C>A NCBI36
NG_007274.1:g.860C>A , LRG_46:g.860C>A
NG_009627.1:g.8234C>A , LRG_57:g.8234C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.367-40C>A MANE Select ENSP00000263621.1:n.367-40C>A
ENST00000263621.1:c.367-40C>A ENSP00000263621.1:n.367-40C>A
ENST00000590230.5:c.367-40C>A ENSP00000466090.1:n.367-40C>A
NM_001972.2:c.367-40C>A , LRG_57t1:c.367-40C>A NP_001963.1:n.367-40C>A
XM_011527775.1:c.367-40C>A XP_011526077.1:n.367-40C>A
XM_011527776.1:c.367-40C>A XP_011526078.1:n.367-40C>A
NM_001972.3:c.367-40C>A NP_001963.1:n.367-40C>A
NM_001972.4:c.367-40C>A MANE Select NP_001963.1:n.367-40C>A
Search 100 bp 5'
Search 100 bp 3'