Canonical Allele Identifier: CA2317361729
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs1599295053

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856201A>G , CM000681.2:g.856201A>G GRCh38
NC_000019.9:g.856201A>G , CM000681.1:g.856201A>G GRCh37
NC_000019.8:g.807201A>G NCBI36
NG_007274.1:g.1537A>G , LRG_46:g.1537A>G
NG_009627.1:g.8911A>G , LRG_57:g.8911A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.*37A>G MANE Select ENSP00000263621.1:n.*37A>G
ENST00000263621.1:c.*37A>G ENSP00000263621.1:n.*37A>G
ENST00000590230.5:c.*37A>G ENSP00000466090.1:n.*37A>G
NM_001972.2:c.*37A>G , LRG_57t1:c.*37A>G NP_001963.1:n.*37A>G
XM_011527775.1:c.*37A>G XP_011526077.1:n.*37A>G
XM_011527776.1:c.*37A>G XP_011526078.1:n.*37A>G
NM_001972.3:c.*37A>G NP_001963.1:n.*37A>G
NM_001972.4:c.*37A>G MANE Select NP_001963.1:n.*37A>G