Canonical Allele Identifier: CA2317360123
Gene: ELANE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.852945C= , CM000681.2:g.852945C= GRCh38
NC_000019.9:g.852945C= , CM000681.1:g.852945C= GRCh37
NC_000019.8:g.803945C= NCBI36
NG_009627.1:g.5655C= , LRG_57:g.5655C=

Transcript Alleles

HGVS Amino-acid Change
NM_001972.4:c.137C= MANE Select NP_001963.1:p.Ser46=
ENST00000263621.2:c.137C= MANE Select ENSP00000263621.1:p.Ser46=
NM_001972.2:c.137C= , LRG_57t1:c.137C= NP_001963.1:p.Ser46=
NM_001972.3:c.137C= NP_001963.1:p.Ser46=
ENST00000263621.1:c.137C= ENSP00000263621.1:p.Ser46=
ENST00000590230.5:c.137C= ENSP00000466090.1:p.Ser46=
XM_011527775.1:c.137C= XP_011526077.1:p.Ser46=
XM_011527776.1:c.137C= XP_011526078.1:p.Ser46=