Canonical Allele Identifier: CA504684993
Gene: ELANE HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.853379G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853379G>A , CM000681.2:g.853379G>A GRCh38
NC_000019.9:g.853379G>A , CM000681.1:g.853379G>A GRCh37
NC_000019.8:g.804379G>A NCBI36
NG_009627.1:g.6089G>A , LRG_57:g.6089G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.342G>A MANE Select ENSP00000263621.1:p.Leu114=
ENST00000263621.1:c.342G>A ENSP00000263621.1:p.Leu114=
ENST00000590230.5:c.342G>A ENSP00000466090.1:p.Leu114=
NM_001972.2:c.342G>A , LRG_57t1:c.342G>A NP_001963.1:p.Leu114=
XM_011527775.1:c.342G>A XP_011526077.1:p.Leu114=
XM_011527776.1:c.342G>A XP_011526078.1:p.Leu114=
NM_001972.3:c.342G>A NP_001963.1:p.Leu114=
NM_001972.4:c.342G>A MANE Select NP_001963.1:p.Leu114=
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