Canonical Allele Identifier: CA2740091648
Gene: SDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2945327
ClinVar RCV Id: RCV003800981

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.240451del , CM000667.2:g.240451del GRCh38
NC_000005.9:g.240566del , CM000667.1:g.240566del GRCh37
NC_000005.8:g.293566del NCBI36
NG_012339.1:g.27211del

Transcript Alleles

HGVS Amino-acid change
ENST00000264932.11:c.1526del MANE Select ENSP00000264932.6:p.Ser509TrpfsTer?
ENST00000651543.1:c.*259del ENSP00000499215.1:n.*259del
ENST00000264932.10:c.1526del ENSP00000264932.6:p.Ser509TrpfsTer?
ENST00000504309.5:c.1526del ENSP00000426514.1:p.Ser509TrpfsTer?
ENST00000505555.5:n.1566del
ENST00000509082.1:n.8del
ENST00000510361.5:c.1382del ENSP00000427703.1:p.Ser461TrpfsTer?
ENST00000511810.5:n.2273del
ENST00000514027.5:n.1481del
ENST00000515752.5:n.1112del
ENST00000515815.5:c.181del
ENST00000617470.4:c.1091del ENSP00000484230.1:p.Ser364TrpfsTer?
NM_001294332.1:c.1382del NP_001281261.1:p.Ser461TrpfsTer?
NM_004168.3:c.1526del NP_004159.2:p.Ser509TrpfsTer?
XM_005248331.2:c.1526del XP_005248388.1:p.Ser509TrpfsTer?
XM_011514072.1:c.1526del XP_011512374.1:p.Ser509TrpfsTer?
XM_011514073.1:c.1526del XP_011512375.1:p.Ser509TrpfsTer?
XR_925638.1:n.1659del
NM_001330758.1:c.1526del NP_001317687.1:p.Ser509TrpfsTer?
XM_011514072.2:c.1526del XP_011512374.1:p.Ser509TrpfsTer?
XM_011514073.2:c.1526del XP_011512375.1:p.Ser509TrpfsTer?
XM_017009685.2:c.1526del XP_016865174.1:p.Ser509TrpfsTer?
XM_024446143.1:c.1382del XP_024301911.1:p.Ser461TrpfsTer?
XR_002956167.1:n.1573del
NM_004168.4:c.1526del MANE Select NP_004159.2:p.Ser509TrpfsTer?
NM_001294332.2:c.1382del NP_001281261.1:p.Ser461TrpfsTer?
NM_001330758.2:c.1526del NP_001317687.1:p.Ser509TrpfsTer?