Canonical Allele Identifier: CA359002836
Gene: SDHA HGNC NCBI
Revel Score:
gnomAD v2:
gnomAD v3:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.256368C>G , CM000667.2:g.256368C>G GRCh38
NC_000005.9:g.256483C>G , CM000667.1:g.256483C>G GRCh37
NC_000005.8:g.309483C>G NCBI36
NG_012339.1:g.43128C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264932.11:c.1943C>G MANE Select ENSP00000264932.6:p.Thr648Ser
ENST00000651543.1:c.*676C>G ENSP00000499215.1:n.*676C>G
ENST00000264932.10:c.1943C>G ENSP00000264932.6:p.Thr648Ser
ENST00000503674.5:n.2115C>G
ENST00000504309.5:c.1700C>G ENSP00000426514.1:p.Thr567Ser
ENST00000507522.1:n.333C>G
ENST00000509082.1:n.120C>G
ENST00000509564.1:c.316C>G ENSP00000421911.1:n.316C>G
ENST00000510361.5:c.1799C>G ENSP00000427703.1:p.Thr600Ser
ENST00000511810.5:n.2690C>G
ENST00000514027.5:n.1898C>G
ENST00000515752.5:n.1529C>G
ENST00000515815.5:c.390C>G
ENST00000617470.4:c.1508C>G ENSP00000484230.1:p.Thr503Ser
NM_001294332.1:c.1799C>G NP_001281261.1:p.Thr600Ser
NM_004168.3:c.1943C>G NP_004159.2:p.Thr648Ser
XM_005248331.2:c.1700C>G XP_005248388.1:p.Thr567Ser
XM_011514072.1:c.1908+1862C>G XP_011512374.1:n.1908+1862C>G
XM_011514073.1:c.1665+1862C>G XP_011512375.1:n.1665+1862C>G
XR_925638.1:n.2041+1862C>G
NM_001330758.1:c.1700C>G NP_001317687.1:p.Thr567Ser
XM_011514072.2:c.1908+1862C>G XP_011512374.1:n.1908+1862C>G
XM_011514073.2:c.1665+1862C>G XP_011512375.1:n.1665+1862C>G
XM_017009685.2:c.*1412C>G XP_016865174.1:n.*1412C>G
XM_024446143.1:c.*1412C>G XP_024301911.1:n.*1412C>G
XR_002956167.1:n.4914C>G
NM_004168.4:c.1943C>G MANE Select NP_004159.2:p.Thr648Ser
NM_001294332.2:c.1799C>G NP_001281261.1:p.Thr600Ser
NM_001330758.2:c.1700C>G NP_001317687.1:p.Thr567Ser