Canonical Allele Identifier: CA2813227013
Gene: ELANE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853162A>T , CM000681.2:g.853162A>T GRCh38
NC_000019.9:g.853162A>T , CM000681.1:g.853162A>T GRCh37
NC_000019.8:g.804162A>T NCBI36
NG_009627.1:g.5872A>T , LRG_57:g.5872A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.225-100A>T MANE Select ENSP00000263621.1:n.225-100A>T
ENST00000263621.1:c.225-100A>T ENSP00000263621.1:n.225-100A>T
ENST00000590230.5:c.225-100A>T ENSP00000466090.1:n.225-100A>T
NM_001972.2:c.225-100A>T , LRG_57t1:c.225-100A>T NP_001963.1:n.225-100A>T
XM_011527775.1:c.225-100A>T XP_011526077.1:n.225-100A>T
XM_011527776.1:c.225-100A>T XP_011526078.1:n.225-100A>T
NM_001972.3:c.225-100A>T NP_001963.1:n.225-100A>T
NM_001972.4:c.225-100A>T MANE Select NP_001963.1:n.225-100A>T
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