Canonical Allele Identifier: CA402915095
Gene: ELANE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853263A>T , CM000681.2:g.853263A>T GRCh38
NC_000019.9:g.853263A>T , CM000681.1:g.853263A>T GRCh37
NC_000019.8:g.804263A>T NCBI36
NG_009627.1:g.5973A>T , LRG_57:g.5973A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.226A>T MANE Select ENSP00000263621.1:p.Asn76Tyr
ENST00000263621.1:c.226A>T ENSP00000263621.1:p.Asn76Tyr
ENST00000590230.5:c.226A>T ENSP00000466090.1:p.Asn76Tyr
NM_001972.2:c.226A>T , LRG_57t1:c.226A>T NP_001963.1:p.Asn76Tyr
XM_011527775.1:c.226A>T XP_011526077.1:p.Asn76Tyr
XM_011527776.1:c.226A>T XP_011526078.1:p.Asn76Tyr
NM_001972.3:c.226A>T NP_001963.1:p.Asn76Tyr
NM_001972.4:c.226A>T MANE Select NP_001963.1:p.Asn76Tyr