×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2317360114
Gene: ELANE
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.852928G= , CM000681.2:g.852928G=
GRCh38
NC_000019.9:g.852928G= , CM000681.1:g.852928G=
GRCh37
NC_000019.8:g.803928G=
NCBI36
NG_009627.1:g.5638G= , LRG_57:g.5638G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000263621.2:c.120G=
MANE Select
ENSP00000263621.1:p.Ala40=
ENST00000263621.1:c.120G=
ENSP00000263621.1:p.Ala40=
ENST00000590230.5:c.120G=
ENSP00000466090.1:p.Ala40=
NM_001972.2:c.120G= , LRG_57t1:c.120G=
NP_001963.1:p.Ala40=
XM_011527775.1:c.120G=
XP_011526077.1:p.Ala40=
XM_011527776.1:c.120G=
XP_011526078.1:p.Ala40=
NM_001972.3:c.120G=
NP_001963.1:p.Ala40=
NM_001972.4:c.120G=
MANE Select
NP_001963.1:p.Ala40=
Search 100 bp 5'
Search 100 bp 3'