Canonical Allele Identifier: CA2317359862
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs2035620720
gnomAD v4: 19-853130-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853130G>C , CM000681.2:g.853130G>C GRCh38
NC_000019.9:g.853130G>C , CM000681.1:g.853130G>C GRCh37
NC_000019.8:g.804130G>C NCBI36
NG_009627.1:g.5840G>C , LRG_57:g.5840G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.224+98G>C MANE Select ENSP00000263621.1:n.224+98G>C
ENST00000263621.1:c.224+98G>C ENSP00000263621.1:n.224+98G>C
ENST00000590230.5:c.224+98G>C ENSP00000466090.1:n.224+98G>C
NM_001972.2:c.224+98G>C , LRG_57t1:c.224+98G>C NP_001963.1:n.224+98G>C
XM_011527775.1:c.224+98G>C XP_011526077.1:n.224+98G>C
XM_011527776.1:c.224+98G>C XP_011526078.1:n.224+98G>C
NM_001972.3:c.224+98G>C NP_001963.1:n.224+98G>C
NM_001972.4:c.224+98G>C MANE Select NP_001963.1:n.224+98G>C
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