Canonical Allele Identifier: CA10583957
Gene: ELANE HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.852945C>A
GRCh37 chr19:g.852945C>A
Revel Score:
ENST00000263621 (MANE Select) 0.769
ClinVar Allele:
243848
ClinVar RCV:
RCV000227061
ClinVar Variation:
242295
dbSNP:
878855320
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.137C>A MANE Select ENSP00000263621.1:p.Ser46Tyr
ENST00000263621.1:c.137C>A ENSP00000263621.1:p.Ser46Tyr
ENST00000590230.5:c.137C>A ENSP00000466090.1:p.Ser46Tyr
NM_001972.2:c.137C>A , LRG_57t1:c.137C>A NP_001963.1:p.Ser46Tyr
XM_011527775.1:c.137C>A XP_011526077.1:p.Ser46Tyr
XM_011527776.1:c.137C>A XP_011526078.1:p.Ser46Tyr
NM_001972.3:c.137C>A NP_001963.1:p.Ser46Tyr
NM_001972.4:c.137C>A MANE Select NP_001963.1:p.Ser46Tyr
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