Canonical Allele Identifier: CA10582426
Gene: SDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 239634
dbSNP Id: rs746165168
gnomAD v3: 5-233635-C-T
gnomAD v4: 5-233635-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.233635C>T , CM000667.2:g.233635C>T GRCh38
NC_000005.9:g.233750C>T , CM000667.1:g.233750C>T GRCh37
NC_000005.8:g.286750C>T NCBI36
NG_012339.1:g.20395C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264932.11:c.1054C>T MANE Select ENSP00000264932.6:p.Arg352Ter
ENST00000651543.1:c.1054C>T ENSP00000499215.1:p.Arg352Ter
ENST00000264932.10:c.1054C>T ENSP00000264932.6:p.Arg352Ter
ENST00000504309.5:c.1054C>T ENSP00000426514.1:p.Arg352Ter
ENST00000504824.5:n.1039C>T
ENST00000505555.5:n.1094C>T
ENST00000510361.5:c.910C>T ENSP00000427703.1:p.Arg304Ter
ENST00000512962.5:n.217C>T
ENST00000514027.5:n.1009C>T
ENST00000515752.5:n.217C>T
ENST00000617470.4:c.619C>T ENSP00000484230.1:p.Arg207Ter
NM_001294332.1:c.910C>T NP_001281261.1:p.Arg304Ter
NM_004168.3:c.1054C>T NP_004159.2:p.Arg352Ter
XM_005248331.2:c.1054C>T XP_005248388.1:p.Arg352Ter
XM_011514072.1:c.1054C>T XP_011512374.1:p.Arg352Ter
XM_011514073.1:c.1054C>T XP_011512375.1:p.Arg352Ter
XR_925638.1:n.1187C>T
NM_001330758.1:c.1054C>T NP_001317687.1:p.Arg352Ter
XM_011514072.2:c.1054C>T XP_011512374.1:p.Arg352Ter
XM_011514073.2:c.1054C>T XP_011512375.1:p.Arg352Ter
XM_017009685.2:c.1054C>T XP_016865174.1:p.Arg352Ter
XM_024446143.1:c.910C>T XP_024301911.1:p.Arg304Ter
XR_002956167.1:n.1101C>T
NM_004168.4:c.1054C>T MANE Select NP_004159.2:p.Arg352Ter
NM_001294332.2:c.910C>T NP_001281261.1:p.Arg304Ter
NM_001330758.2:c.1054C>T NP_001317687.1:p.Arg352Ter