Canonical Allele Identifier: CA3173310

Gene: SDHA

Linked Data

• ClinVar Variation Id: 412397
• ClinVar RCV Id: RCV000458208 ; RCV000569746 ; RCV000662939
• dbSNP Id: rs181238392
• ExAC: 5:251207 C / T
• gnomAD v2: 5-251207-C-T
• gnomAD v3: 5-251092-C-T
• gnomAD v4: 5-251092-C-T
• MyVariant Identifiers: chr5:g.251207C>T (hg19) ; chr5:g.251092C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.251092C>T , CM000667.2:g.251092C>T	GRCh38
NC_000005.9:g.251207C>T , CM000667.1:g.251207C>T	GRCh37
NC_000005.8:g.304207C>T	NCBI36
NG_012339.1:g.37852C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.11:c.1652C>T MANE Select	ENSP00000264932.6:p.Thr551Met
ENST00000651543.1:c.*385C>T	ENSP00000499215.1:n.*385C>T
ENST00000264932.10:c.1652C>T	ENSP00000264932.6:p.Thr551Met
ENST00000503674.5:n.1824C>T
ENST00000504309.5:c.1552-3301C>T	ENSP00000426514.1:n.1552-3301C>T
ENST00000505555.5:n.1692C>T
ENST00000507266.1:n.399C>T
ENST00000509082.1:n.85+49C>T
ENST00000510361.5:c.1508C>T	ENSP00000427703.1:p.Thr503Met
ENST00000511810.5:n.2399C>T
ENST00000514027.5:n.1607C>T
ENST00000515752.5:n.1238C>T
ENST00000515815.5:c.207-3266C>T
ENST00000617470.4:c.1217C>T	ENSP00000484230.1:p.Thr406Met
NM_001294332.1:c.1508C>T	NP_001281261.1:p.Thr503Met
NM_004168.3:c.1652C>T	NP_004159.2:p.Thr551Met
XM_005248331.2:c.1552-3301C>T	XP_005248388.1:n.1552-3301C>T
XM_011514072.1:c.1652C>T	XP_011512374.1:p.Thr551Met
XM_011514073.1:c.1552-3301C>T	XP_011512375.1:n.1552-3301C>T
XR_925638.1:n.1785C>T
NM_001330758.1:c.1552-3301C>T	NP_001317687.1:n.1552-3301C>T
XM_011514072.2:c.1652C>T	XP_011512374.1:p.Thr551Met
XM_011514073.2:c.1552-3301C>T	XP_011512375.1:n.1552-3301C>T
XM_017009685.2:c.1652C>T	XP_016865174.1:p.Thr551Met
XM_024446143.1:c.1508C>T	XP_024301911.1:p.Thr503Met
XR_002956167.1:n.1699C>T
NM_004168.4:c.1652C>T MANE Select	NP_004159.2:p.Thr551Met
NM_001294332.2:c.1508C>T	NP_001281261.1:p.Thr503Met
NM_001330758.2:c.1552-3301C>T	NP_001317687.1:n.1552-3301C>T