Canonical Allele Identifier: CA2317361714
Gene: ELANE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856176C= , CM000681.2:g.856176C= GRCh38
NC_000019.9:g.856176C= , CM000681.1:g.856176C= GRCh37
NC_000019.8:g.807176C= NCBI36
NG_007274.1:g.1512C= , LRG_46:g.1512C=
NG_009627.1:g.8886C= , LRG_57:g.8886C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.*12C= MANE Select ENSP00000263621.1:n.*12C=
ENST00000263621.1:c.*12C= ENSP00000263621.1:n.*12C=
ENST00000590230.5:c.*12C= ENSP00000466090.1:n.*12C=
NM_001972.2:c.*12C= , LRG_57t1:c.*12C= NP_001963.1:n.*12C=
XM_011527775.1:c.*12C= XP_011526077.1:n.*12C=
XM_011527776.1:c.*12C= XP_011526078.1:n.*12C=
NM_001972.3:c.*12C= NP_001963.1:n.*12C=
NM_001972.4:c.*12C= MANE Select NP_001963.1:n.*12C=