Canonical Allele Identifier: CA402915201
Gene: ELANE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853285T>A , CM000681.2:g.853285T>A GRCh38
NC_000019.9:g.853285T>A , CM000681.1:g.853285T>A GRCh37
NC_000019.8:g.804285T>A NCBI36
NG_009627.1:g.5995T>A , LRG_57:g.5995T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.248T>A MANE Select ENSP00000263621.1:p.Val83Asp
ENST00000263621.1:c.248T>A ENSP00000263621.1:p.Val83Asp
ENST00000590230.5:c.248T>A ENSP00000466090.1:p.Val83Asp
NM_001972.2:c.248T>A , LRG_57t1:c.248T>A NP_001963.1:p.Val83Asp
XM_011527775.1:c.248T>A XP_011526077.1:p.Val83Asp
XM_011527776.1:c.248T>A XP_011526078.1:p.Val83Asp
NM_001972.3:c.248T>A NP_001963.1:p.Val83Asp
NM_001972.4:c.248T>A MANE Select NP_001963.1:p.Val83Asp