Canonical Allele Identifier: CA891842547

Gene: SDHA

Linked Data

• ClinVar Variation Id: 568815
• ClinVar RCV Id: RCV000689287 ; RCV004026322 ; RCV004026321

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.251426_251427delinsGT , CM000667.2:g.251426_251427delinsGT	GRCh38
NC_000005.9:g.251541_251542delinsGT , CM000667.1:g.251541_251542delinsGT	GRCh37
NC_000005.8:g.304541_304542delinsGT	NCBI36
NG_012339.1:g.38186_38187delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1752_1753delinsGT MANE Select	ENSP00000264932.6:p.Arg585Trp
ENST00000651543.1:c.*485_*486delinsGT	ENSP00000499215.1:n.*485_*486delinsGT
ENST00000264932.10:c.1752_1753delinsGT	ENSP00000264932.6:p.Arg585Trp
ENST00000503674.5:n.1924_1925delinsGT
ENST00000504309.5:c.1552-2967_1552-2966delinsGT	ENSP00000426514.1:n.1552-2967_1552-2966delinsGT
ENST00000505555.5:n.1792_1793delinsGT
ENST00000507522.1:n.86_87delinsGT
ENST00000509082.1:n.85+383_85+384delinsGT
ENST00000509564.1:c.90_91delinsGT	ENSP00000421911.1:p.Arg31Trp
ENST00000510361.5:c.1608_1609delinsGT	ENSP00000427703.1:p.Arg537Trp
ENST00000511810.5:n.2499_2500delinsGT
ENST00000514027.5:n.1707_1708delinsGT
ENST00000515752.5:n.1338_1339delinsGT
ENST00000515815.5:c.207-2932_207-2931delinsGT
ENST00000617470.4:c.1317_1318delinsGT	ENSP00000484230.1:p.Arg440Trp
NM_001294332.1:c.1608_1609delinsGT	NP_001281261.1:p.Arg537Trp
NM_004168.3:c.1752_1753delinsGT	NP_004159.2:p.Arg585Trp
XM_005248331.2:c.1552-2967_1552-2966delinsGT	XP_005248388.1:n.1552-2967_1552-2966delinsGT
XM_011514072.1:c.1752_1753delinsGT	XP_011512374.1:p.Arg585Trp
XM_011514073.1:c.1552-2967_1552-2966delinsGT	XP_011512375.1:n.1552-2967_1552-2966delinsGT
XR_925638.1:n.1885_1886delinsGT
NM_001330758.1:c.1552-2967_1552-2966delinsGT	NP_001317687.1:n.1552-2967_1552-2966delinsGT
XM_011514072.2:c.1752_1753delinsGT	XP_011512374.1:p.Arg585Trp
XM_011514073.2:c.1552-2967_1552-2966delinsGT	XP_011512375.1:n.1552-2967_1552-2966delinsGT
XM_017009685.2:c.1752_1753delinsGT	XP_016865174.1:p.Arg585Trp
XM_024446143.1:c.1608_1609delinsGT	XP_024301911.1:p.Arg537Trp
XR_002956167.1:n.1799_1800delinsGT
NM_004168.4:c.1752_1753delinsGT MANE Select	NP_004159.2:p.Arg585Trp
NM_001294332.2:c.1608_1609delinsGT	NP_001281261.1:p.Arg537Trp
NM_001330758.2:c.1552-2967_1552-2966delinsGT	NP_001317687.1:n.1552-2967_1552-2966delinsGT