Canonical Allele Identifier: CA2587805388
Gene: ELANE HGNC NCBI

Linked Data

gnomAD v4: 19-855923-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855923G>T , CM000681.2:g.855923G>T GRCh38
NC_000019.9:g.855923G>T , CM000681.1:g.855923G>T GRCh37
NC_000019.8:g.806923G>T NCBI36
NG_007274.1:g.1259G>T , LRG_46:g.1259G>T
NG_009627.1:g.8633G>T , LRG_57:g.8633G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.598-35G>T MANE Select ENSP00000263621.1:n.598-35G>T
ENST00000263621.1:c.598-35G>T ENSP00000263621.1:n.598-35G>T
ENST00000590230.5:c.598-35G>T ENSP00000466090.1:n.598-35G>T
NM_001972.2:c.598-35G>T , LRG_57t1:c.598-35G>T NP_001963.1:n.598-35G>T
XM_011527775.1:c.598-35G>T XP_011526077.1:n.598-35G>T
XM_011527776.1:c.598-35G>T XP_011526078.1:n.598-35G>T
NM_001972.3:c.598-35G>T NP_001963.1:n.598-35G>T
NM_001972.4:c.598-35G>T MANE Select NP_001963.1:n.598-35G>T
Search 100 bp 5'
Search 100 bp 3'