Canonical Allele Identifier: CA416048666
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2575364
ClinVar RCV Id: RCV003320939
MyVariant Identifiers: chr1:g.17380446C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17053951C>A , CM000663.2:g.17053951C>A GRCh38
NC_000001.10:g.17380446C>A , CM000663.1:g.17380446C>A GRCh37
NC_000001.9:g.17253033C>A NCBI36
NG_012340.1:g.5220G>T , LRG_316:g.5220G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375499.8:c.69G>T MANE Select ENSP00000364649.3:p.Leu23=
ENST00000375499.7:c.69G>T ENSP00000364649.3:p.Leu23=
ENST00000466613.2:n.81G>T
ENST00000485515.5:n.57G>T
NM_003000.2:c.69G>T , LRG_316t1:c.69G>T NP_002991.2:p.Leu23=
NM_003000.3:c.69G>T MANE Select NP_002991.2:p.Leu23=
Search 100 bp 5'
Search 100 bp 3'