Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA402916196

Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 2923148

ClinVar RCV Id: RCV003780266

MyVariant Identifiers: chr19:g.853356A>G (hg19) chr19:g.853356A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853356A>G , CM000681.2:g.853356A>G	GRCh38
NC_000019.9:g.853356A>G , CM000681.1:g.853356A>G	GRCh37
NC_000019.8:g.804356A>G	NCBI36
NG_009627.1:g.6066A>G , LRG_57:g.6066A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.319A>G MANE Select	ENSP00000263621.1:p.Asn107Asp
ENST00000263621.1:c.319A>G	ENSP00000263621.1:p.Asn107Asp
ENST00000590230.5:c.319A>G	ENSP00000466090.1:p.Asn107Asp
NM_001972.2:c.319A>G , LRG_57t1:c.319A>G	NP_001963.1:p.Asn107Asp
XM_011527775.1:c.319A>G	XP_011526077.1:p.Asn107Asp
XM_011527776.1:c.319A>G	XP_011526078.1:p.Asn107Asp
NM_001972.3:c.319A>G	NP_001963.1:p.Asn107Asp
NM_001972.4:c.319A>G MANE Select	NP_001963.1:p.Asn107Asp