Canonical Allele Identifier: CA2317361566
Gene: ELANE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855914C= , CM000681.2:g.855914C= GRCh38
NC_000019.9:g.855914C= , CM000681.1:g.855914C= GRCh37
NC_000019.8:g.806914C= NCBI36
NG_007274.1:g.1250C= , LRG_46:g.1250C=
NG_009627.1:g.8624C= , LRG_57:g.8624C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.598-44C= MANE Select ENSP00000263621.1:n.598-44C=
ENST00000263621.1:c.598-44C= ENSP00000263621.1:n.598-44C=
ENST00000590230.5:c.598-44C= ENSP00000466090.1:n.598-44C=
NM_001972.2:c.598-44C= , LRG_57t1:c.598-44C= NP_001963.1:n.598-44C=
XM_011527775.1:c.598-44C= XP_011526077.1:n.598-44C=
XM_011527776.1:c.598-44C= XP_011526078.1:n.598-44C=
NM_001972.3:c.598-44C= NP_001963.1:n.598-44C=
NM_001972.4:c.598-44C= MANE Select NP_001963.1:n.598-44C=