Canonical Allele Identifier: CA2317361604
Gene: ELANE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855967G= , CM000681.2:g.855967G= GRCh38
NC_000019.9:g.855967G= , CM000681.1:g.855967G= GRCh37
NC_000019.8:g.806967G= NCBI36
NG_007274.1:g.1303G= , LRG_46:g.1303G=
NG_009627.1:g.8677G= , LRG_57:g.8677G=

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.607G= MANE Select ENSP00000263621.1:p.Gly203=
ENST00000263621.1:c.607G= ENSP00000263621.1:p.Gly203=
ENST00000590230.5:c.607G= ENSP00000466090.1:p.Gly203=
NM_001972.2:c.607G= , LRG_57t1:c.607G= NP_001963.1:p.Gly203=
XM_011527775.1:c.607G= XP_011526077.1:p.Gly203=
XM_011527776.1:c.607G= XP_011526078.1:p.Gly203=
NM_001972.3:c.607G= NP_001963.1:p.Gly203=
NM_001972.4:c.607G= MANE Select NP_001963.1:p.Gly203=