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.

Canonical Allele Identifier: CA10623795

Gene: IL12B HGNC NCBI

Linked Data

ClinVar Variation Id: 352570

ClinVar RCV Id: RCV000343502

dbSNP Id: rs530595443

gnomAD v2: 5-158742987-T-TA

gnomAD v3: 5-159315979-T-TA

gnomAD v4: 5-159315979-T-TA

MyVariant Identifiers: chr5:g.158742988dupA (hg19) chr5:g.158742987_158742988insA (hg19) chr5:g.159315980dupA (hg38) chr5:g.159315979_159315980insA (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159315986dup , CM000667.2:g.159315986dup	GRCh38
NC_000005.9:g.158742994dup , CM000667.1:g.158742994dup	GRCh37
NC_000005.8:g.158675572dup	NCBI36
NG_009618.1:g.19494dup , LRG_71:g.19494dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696750.1:c.*121dup	ENSP00000512849.1:n.*121dup
ENST00000696751.1:c.*603dup	ENSP00000512850.1:n.*603dup
ENST00000231228.3:c.*121dup MANE Select	ENSP00000231228.2:n.*121dup
ENST00000231228.2:c.*121dup	ENSP00000231228.2:n.*121dup
NM_002187.2:c.121dup , LRG_71t1:c.121dup	NP_002178.2:n.*121dup
NM_002187.3:c.*121dup MANE Select	NP_002178.2:n.*121dup

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