Canonical Allele Identifier: CA338275142
Gene: SDHB HGNC NCBI

Linked Data

gnomAD v4: 1-17028725-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17028725A>G , CM000663.2:g.17028725A>G GRCh38
NC_000001.10:g.17355220A>G , CM000663.1:g.17355220A>G GRCh37
NC_000001.9:g.17227807A>G NCBI36
NG_012340.1:g.30446T>C , LRG_316:g.30446T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.127T>C ENSP00000481376.2:p.Ser43Pro
ENST00000491274.6:c.256T>C ENSP00000480482.2:p.Ser86Pro
ENST00000375499.8:c.298T>C MANE Select ENSP00000364649.3:p.Ser100Pro
ENST00000375499.7:c.298T>C ENSP00000364649.3:p.Ser100Pro
ENST00000463045.2:c.127T>C ENSP00000481376.1:p.Ser43Pro
ENST00000475506.1:n.215T>C
ENST00000485515.5:n.286T>C
ENST00000491274.5:c.256T>C ENSP00000480482.1:p.Ser86Pro
NM_003000.2:c.298T>C , LRG_316t1:c.298T>C NP_002991.2:p.Ser100Pro
NM_003000.3:c.298T>C MANE Select NP_002991.2:p.Ser100Pro