Canonical Allele Identifier: CA338273506

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1451060
• ClinVar RCV Id: RCV002331526 ; RCV002021903 ; RCV004010983
• dbSNP Id: rs759709073
• gnomAD v4: 1-17027864-T-C
• MyVariant Identifiers: chr1:g.17354359T>C (hg19) ; chr1:g.17027864T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027864T>C , CM000663.2:g.17027864T>C	GRCh38
NC_000001.10:g.17354359T>C , CM000663.1:g.17354359T>C	GRCh37
NC_000001.9:g.17226946T>C	NCBI36
NG_012340.1:g.31307A>G , LRG_316:g.31307A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.254A>G	ENSP00000481376.2:p.Asp85Gly
ENST00000491274.6:c.383A>G	ENSP00000480482.2:p.Asp128Gly
ENST00000375499.8:c.425A>G MANE Select	ENSP00000364649.3:p.Asp142Gly
ENST00000375499.7:c.425A>G	ENSP00000364649.3:p.Asp142Gly
ENST00000463045.2:c.254A>G	ENSP00000481376.1:p.Asp85Gly
ENST00000475506.1:n.342A>G
ENST00000485515.5:n.359A>G
ENST00000491274.5:c.383A>G	ENSP00000480482.1:p.Asp128Gly
NM_003000.2:c.425A>G , LRG_316t1:c.425A>G	NP_002991.2:p.Asp142Gly
NM_003000.3:c.425A>G MANE Select	NP_002991.2:p.Asp142Gly