Canonical Allele Identifier: CA402915241
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 644765
ClinVar RCV Id: RCV001796230
dbSNP Id: rs1599291445
gnomAD v4: 19-853293-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853293G>T , CM000681.2:g.853293G>T GRCh38
NC_000019.9:g.853293G>T , CM000681.1:g.853293G>T GRCh37
NC_000019.8:g.804293G>T NCBI36
NG_009627.1:g.6003G>T , LRG_57:g.6003G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.256G>T MANE Select ENSP00000263621.1:p.Ala86Ser
ENST00000263621.1:c.256G>T ENSP00000263621.1:p.Ala86Ser
ENST00000590230.5:c.256G>T ENSP00000466090.1:p.Ala86Ser
NM_001972.2:c.256G>T , LRG_57t1:c.256G>T NP_001963.1:p.Ala86Ser
XM_011527775.1:c.256G>T XP_011526077.1:p.Ala86Ser
XM_011527776.1:c.256G>T XP_011526078.1:p.Ala86Ser
NM_001972.3:c.256G>T NP_001963.1:p.Ala86Ser
NM_001972.4:c.256G>T MANE Select NP_001963.1:p.Ala86Ser