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: CA338270117

Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 438427

ClinVar RCV Id: RCV000505279 RCV003766867

dbSNP Id: rs146800605

MyVariant Identifiers: chr1:g.17349132T>A (hg19) chr1:g.17022637T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022637T>A , CM000663.2:g.17022637T>A	GRCh38
NC_000001.10:g.17349132T>A , CM000663.1:g.17349132T>A	GRCh37
NC_000001.9:g.17221719T>A	NCBI36
NG_012340.1:g.36534A>T , LRG_316:g.36534A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.565A>T	ENSP00000481376.2:p.Ile189Phe
ENST00000491274.6:c.694A>T	ENSP00000480482.2:p.Ile232Phe
ENST00000375499.8:c.736A>T MANE Select	ENSP00000364649.3:p.Ile246Phe
ENST00000375499.7:c.736A>T	ENSP00000364649.3:p.Ile246Phe
ENST00000475049.5:n.161A>T
ENST00000485092.5:n.400A>T
ENST00000485515.5:n.670A>T
NM_003000.2:c.736A>T , LRG_316t1:c.736A>T	NP_002991.2:p.Ile246Phe
NM_003000.3:c.736A>T MANE Select	NP_002991.2:p.Ile246Phe