Canonical Allele Identifier: CA2317361715
Gene: ELANE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856177G= , CM000681.2:g.856177G= GRCh38
NC_000019.9:g.856177G= , CM000681.1:g.856177G= GRCh37
NC_000019.8:g.807177G= NCBI36
NG_007274.1:g.1513G= , LRG_46:g.1513G=
NG_009627.1:g.8887G= , LRG_57:g.8887G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.*13G= MANE Select ENSP00000263621.1:n.*13G=
ENST00000263621.1:c.*13G= ENSP00000263621.1:n.*13G=
ENST00000590230.5:c.*13G= ENSP00000466090.1:n.*13G=
NM_001972.2:c.*13G= , LRG_57t1:c.*13G= NP_001963.1:n.*13G=
XM_011527775.1:c.*13G= XP_011526077.1:n.*13G=
XM_011527776.1:c.*13G= XP_011526078.1:n.*13G=
NM_001972.3:c.*13G= NP_001963.1:n.*13G=
NM_001972.4:c.*13G= MANE Select NP_001963.1:n.*13G=
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