Canonical Allele Identifier: CA338230604
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1959069
ClinVar RCV Id: RCV002701095
MyVariant Identifiers: chr1:g.17380447A>G (hg19) chr1:g.17053952A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17053952A>G , CM000663.2:g.17053952A>G GRCh38
NC_000001.10:g.17380447A>G , CM000663.1:g.17380447A>G GRCh37
NC_000001.9:g.17253034A>G NCBI36
NG_012340.1:g.5219T>C , LRG_316:g.5219T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375499.8:c.68T>C MANE Select ENSP00000364649.3:p.Leu23Pro
ENST00000375499.7:c.68T>C ENSP00000364649.3:p.Leu23Pro
ENST00000466613.2:n.80T>C
ENST00000485515.5:n.56T>C
NM_003000.2:c.68T>C , LRG_316t1:c.68T>C NP_002991.2:p.Leu23Pro
NM_003000.3:c.68T>C MANE Select NP_002991.2:p.Leu23Pro
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