Canonical Allele Identifier: CA359012572
Community Standard Title: NM_004168.4(SDHA):c.923C>T (p.Thr308Met)
Gene: SDHA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.233504C>T , CM000667.2:g.233504C>T GRCh38
NC_000005.9:g.233619C>T , CM000667.1:g.233619C>T GRCh37
NC_000005.8:g.286619C>T NCBI36
NG_012339.1:g.20264C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004168.4:c.923C>T MANE Select NP_004159.2:p.Thr308Met
ENST00000264932.11:c.923C>T MANE Select ENSP00000264932.6:p.Thr308Met
NM_001294332.1:c.779C>T NP_001281261.1:p.Thr260Met
NM_001294332.2:c.779C>T NP_001281261.1:p.Thr260Met
NM_001330758.1:c.923C>T NP_001317687.1:p.Thr308Met
NM_001330758.2:c.923C>T NP_001317687.1:p.Thr308Met
NM_004168.3:c.923C>T NP_004159.2:p.Thr308Met
ENST00000264932.10:c.923C>T ENSP00000264932.6:p.Thr308Met
ENST00000504309.5:c.923C>T ENSP00000426514.1:p.Thr308Met
ENST00000504824.5:n.908C>T
ENST00000505555.5:n.963C>T
ENST00000510361.5:c.779C>T ENSP00000427703.1:p.Thr260Met
ENST00000512962.5:n.86C>T
ENST00000514027.5:n.878C>T
ENST00000514233.1:n.433C>T
ENST00000515752.5:n.86C>T
ENST00000617470.4:c.488C>T ENSP00000484230.1:p.Thr163Met
ENST00000651543.1:c.923C>T ENSP00000499215.1:p.Thr308Met
XM_005248331.2:c.923C>T XP_005248388.1:p.Thr308Met
XM_011514072.1:c.923C>T XP_011512374.1:p.Thr308Met
XM_011514072.2:c.923C>T XP_011512374.1:p.Thr308Met
XM_011514073.1:c.923C>T XP_011512375.1:p.Thr308Met
XM_011514073.2:c.923C>T XP_011512375.1:p.Thr308Met
XM_017009685.2:c.923C>T XP_016865174.1:p.Thr308Met
XM_024446143.1:c.779C>T XP_024301911.1:p.Thr260Met
XR_002956167.1:n.970C>T
XR_925638.1:n.1056C>T