Canonical Allele Identifier: CA2317359670
Community Standard Title: NM_001972.4(ELANE):c.214G= (p.Val72=)
Gene: ELANE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853022G= , CM000681.2:g.853022G= GRCh38
NC_000019.9:g.853022G= , CM000681.1:g.853022G= GRCh37
NC_000019.8:g.804022G= NCBI36
NG_009627.1:g.5732G= , LRG_57:g.5732G=

Transcript Alleles

HGVS Amino-acid Change
NM_001972.4:c.214G= MANE Select NP_001963.1:p.Val72=
ENST00000263621.2:c.214G= MANE Select ENSP00000263621.1:p.Val72=
NM_001972.2:c.214G= , LRG_57t1:c.214G= NP_001963.1:p.Val72=
NM_001972.3:c.214G= NP_001963.1:p.Val72=
ENST00000263621.1:c.214G= ENSP00000263621.1:p.Val72=
ENST00000590230.5:c.214G= ENSP00000466090.1:p.Val72=
XM_011527775.1:c.214G= XP_011526077.1:p.Val72=
XM_011527776.1:c.214G= XP_011526078.1:p.Val72=