Canonical Allele Identifier: CA402919096
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs1243076107
gnomAD v2: 19-856030-G-A
gnomAD v3: 19-856030-G-A
gnomAD v4: 19-856030-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856030G>A , CM000681.2:g.856030G>A GRCh38
NC_000019.9:g.856030G>A , CM000681.1:g.856030G>A GRCh37
NC_000019.8:g.807030G>A NCBI36
NG_007274.1:g.1366G>A , LRG_46:g.1366G>A
NG_009627.1:g.8740G>A , LRG_57:g.8740G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.670G>A MANE Select ENSP00000263621.1:p.Ala224Thr
ENST00000263621.1:c.670G>A ENSP00000263621.1:p.Ala224Thr
ENST00000590230.5:c.670G>A ENSP00000466090.1:p.Ala224Thr
NM_001972.2:c.670G>A , LRG_57t1:c.670G>A NP_001963.1:p.Ala224Thr
XM_011527775.1:c.670G>A XP_011526077.1:p.Ala224Thr
XM_011527776.1:c.670G>A XP_011526078.1:p.Ala224Thr
NM_001972.3:c.670G>A NP_001963.1:p.Ala224Thr
NM_001972.4:c.670G>A MANE Select NP_001963.1:p.Ala224Thr