Canonical Allele Identifier: CA402918544
Gene: ELANE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855724T>A , CM000681.2:g.855724T>A GRCh38
NC_000019.9:g.855724T>A , CM000681.1:g.855724T>A GRCh37
NC_000019.8:g.806724T>A NCBI36
NG_007274.1:g.1060T>A , LRG_46:g.1060T>A
NG_009627.1:g.8434T>A , LRG_57:g.8434T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.527T>A MANE Select ENSP00000263621.1:p.Val176Glu
ENST00000263621.1:c.527T>A ENSP00000263621.1:p.Val176Glu
ENST00000590230.5:c.527T>A ENSP00000466090.1:p.Val176Glu
NM_001972.2:c.527T>A , LRG_57t1:c.527T>A NP_001963.1:p.Val176Glu
XM_011527775.1:c.527T>A XP_011526077.1:p.Val176Glu
XM_011527776.1:c.527T>A XP_011526078.1:p.Val176Glu
NM_001972.3:c.527T>A NP_001963.1:p.Val176Glu
NM_001972.4:c.527T>A MANE Select NP_001963.1:p.Val176Glu