Canonical Allele Identifier: CA2587805523
Gene: ELANE HGNC NCBI

Linked Data

gnomAD v4: 19-856202-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856202C>A , CM000681.2:g.856202C>A GRCh38
NC_000019.9:g.856202C>A , CM000681.1:g.856202C>A GRCh37
NC_000019.8:g.807202C>A NCBI36
NG_007274.1:g.1538C>A , LRG_46:g.1538C>A
NG_009627.1:g.8912C>A , LRG_57:g.8912C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.*38C>A MANE Select ENSP00000263621.1:n.*38C>A
ENST00000263621.1:c.*38C>A ENSP00000263621.1:n.*38C>A
ENST00000590230.5:c.*38C>A ENSP00000466090.1:n.*38C>A
NM_001972.2:c.*38C>A , LRG_57t1:c.*38C>A NP_001963.1:n.*38C>A
XM_011527775.1:c.*38C>A XP_011526077.1:n.*38C>A
XM_011527776.1:c.*38C>A XP_011526078.1:n.*38C>A
NM_001972.3:c.*38C>A NP_001963.1:n.*38C>A
NM_001972.4:c.*38C>A MANE Select NP_001963.1:n.*38C>A