Canonical Allele Identifier: CA402918862
Gene: ELANE HGNC NCBI

Linked Data

gnomAD v4: 19-855962-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855962A>T , CM000681.2:g.855962A>T GRCh38
NC_000019.9:g.855962A>T , CM000681.1:g.855962A>T GRCh37
NC_000019.8:g.806962A>T NCBI36
NG_007274.1:g.1298A>T , LRG_46:g.1298A>T
NG_009627.1:g.8672A>T , LRG_57:g.8672A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.602A>T MANE Select ENSP00000263621.1:p.Asp201Val
ENST00000263621.1:c.602A>T ENSP00000263621.1:p.Asp201Val
ENST00000590230.5:c.602A>T ENSP00000466090.1:p.Asp201Val
NM_001972.2:c.602A>T , LRG_57t1:c.602A>T NP_001963.1:p.Asp201Val
XM_011527775.1:c.602A>T XP_011526077.1:p.Asp201Val
XM_011527776.1:c.602A>T XP_011526078.1:p.Asp201Val
NM_001972.3:c.602A>T NP_001963.1:p.Asp201Val
NM_001972.4:c.602A>T MANE Select NP_001963.1:p.Asp201Val