Canonical Allele Identifier: CA402914562
Gene: ELANE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.852948T>G , CM000681.2:g.852948T>G GRCh38
NC_000019.9:g.852948T>G , CM000681.1:g.852948T>G GRCh37
NC_000019.8:g.803948T>G NCBI36
NG_009627.1:g.5658T>G , LRG_57:g.5658T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.140T>G MANE Select ENSP00000263621.1:p.Leu47Arg
ENST00000263621.1:c.140T>G ENSP00000263621.1:p.Leu47Arg
ENST00000590230.5:c.140T>G ENSP00000466090.1:p.Leu47Arg
NM_001972.2:c.140T>G , LRG_57t1:c.140T>G NP_001963.1:p.Leu47Arg
XM_011527775.1:c.140T>G XP_011526077.1:p.Leu47Arg
XM_011527776.1:c.140T>G XP_011526078.1:p.Leu47Arg
NM_001972.3:c.140T>G NP_001963.1:p.Leu47Arg
NM_001972.4:c.140T>G MANE Select NP_001963.1:p.Leu47Arg