Canonical Allele Identifier: CA2317361722
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs2035679935
gnomAD v4: 19-856190-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856190T>A , CM000681.2:g.856190T>A GRCh38
NC_000019.9:g.856190T>A , CM000681.1:g.856190T>A GRCh37
NC_000019.8:g.807190T>A NCBI36
NG_007274.1:g.1526T>A , LRG_46:g.1526T>A
NG_009627.1:g.8900T>A , LRG_57:g.8900T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.*26T>A MANE Select ENSP00000263621.1:n.*26T>A
ENST00000263621.1:c.*26T>A ENSP00000263621.1:n.*26T>A
ENST00000590230.5:c.*26T>A ENSP00000466090.1:n.*26T>A
NM_001972.2:c.*26T>A , LRG_57t1:c.*26T>A NP_001963.1:n.*26T>A
XM_011527775.1:c.*26T>A XP_011526077.1:n.*26T>A
XM_011527776.1:c.*26T>A XP_011526078.1:n.*26T>A
NM_001972.3:c.*26T>A NP_001963.1:n.*26T>A
NM_001972.4:c.*26T>A MANE Select NP_001963.1:n.*26T>A
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