Canonical Allele Identifier: CA359002830

Gene: SDHA

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.256367A>T , CM000667.2:g.256367A>T	GRCh38
NC_000005.9:g.256482A>T , CM000667.1:g.256482A>T	GRCh37
NC_000005.8:g.309482A>T	NCBI36
NG_012339.1:g.43127A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1942A>T MANE Select	ENSP00000264932.6:p.Thr648Ser
ENST00000651543.1:c.*675A>T	ENSP00000499215.1:n.*675A>T
ENST00000264932.10:c.1942A>T	ENSP00000264932.6:p.Thr648Ser
ENST00000503674.5:n.2114A>T
ENST00000504309.5:c.1699A>T	ENSP00000426514.1:p.Thr567Ser
ENST00000507522.1:n.332A>T
ENST00000509082.1:n.119A>T
ENST00000509564.1:c.315A>T	ENSP00000421911.1:n.315A>T
ENST00000510361.5:c.1798A>T	ENSP00000427703.1:p.Thr600Ser
ENST00000511810.5:n.2689A>T
ENST00000514027.5:n.1897A>T
ENST00000515752.5:n.1528A>T
ENST00000515815.5:c.389A>T
ENST00000617470.4:c.1507A>T	ENSP00000484230.1:p.Thr503Ser
NM_001294332.1:c.1798A>T	NP_001281261.1:p.Thr600Ser
NM_004168.3:c.1942A>T	NP_004159.2:p.Thr648Ser
XM_005248331.2:c.1699A>T	XP_005248388.1:p.Thr567Ser
XM_011514072.1:c.1908+1861A>T	XP_011512374.1:n.1908+1861A>T
XM_011514073.1:c.1665+1861A>T	XP_011512375.1:n.1665+1861A>T
XR_925638.1:n.2041+1861A>T
NM_001330758.1:c.1699A>T	NP_001317687.1:p.Thr567Ser
XM_011514072.2:c.1908+1861A>T	XP_011512374.1:n.1908+1861A>T
XM_011514073.2:c.1665+1861A>T	XP_011512375.1:n.1665+1861A>T
XM_017009685.2:c.*1411A>T	XP_016865174.1:n.*1411A>T
XM_024446143.1:c.*1411A>T	XP_024301911.1:n.*1411A>T
XR_002956167.1:n.4913A>T
NM_004168.4:c.1942A>T MANE Select	NP_004159.2:p.Thr648Ser
NM_001294332.2:c.1798A>T	NP_001281261.1:p.Thr600Ser
NM_001330758.2:c.1699A>T	NP_001317687.1:p.Thr567Ser