Canonical Allele Identifier: CA2573139542

Gene: SDHA

Linked Data

• ClinVar Variation Id: 1442909
• ClinVar RCV Id: RCV001969975
• dbSNP Id: rs2126602655

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.240395_240398dup , CM000667.2:g.240395_240398dup	GRCh38
NC_000005.9:g.240510_240513dup , CM000667.1:g.240510_240513dup	GRCh37
NC_000005.8:g.293510_293513dup	NCBI36
NG_012339.1:g.27155_27158dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1470_1473dup MANE Select	ENSP00000264932.6:p.Ser492ArgfsTer7
ENST00000651543.1:c.*203_*206dup	ENSP00000499215.1:n.*203_*206dup
ENST00000264932.10:c.1470_1473dup	ENSP00000264932.6:p.Ser492ArgfsTer7
ENST00000504309.5:c.1470_1473dup	ENSP00000426514.1:p.Ser492ArgfsTer7
ENST00000505555.5:n.1510_1513dup
ENST00000510361.5:c.1326_1329dup	ENSP00000427703.1:p.Ser444ArgfsTer7
ENST00000511810.5:n.2217_2220dup
ENST00000514027.5:n.1425_1428dup
ENST00000515752.5:n.1056_1059dup
ENST00000515815.5:c.125_128dup
ENST00000617470.4:c.1035_1038dup	ENSP00000484230.1:p.Ser347ArgfsTer7
NM_001294332.1:c.1326_1329dup	NP_001281261.1:p.Ser444ArgfsTer7
NM_004168.3:c.1470_1473dup	NP_004159.2:p.Ser492ArgfsTer7
XM_005248331.2:c.1470_1473dup	XP_005248388.1:p.Ser492ArgfsTer7
XM_011514072.1:c.1470_1473dup	XP_011512374.1:p.Ser492ArgfsTer7
XM_011514073.1:c.1470_1473dup	XP_011512375.1:p.Ser492ArgfsTer7
XR_925638.1:n.1603_1606dup
NM_001330758.1:c.1470_1473dup	NP_001317687.1:p.Ser492ArgfsTer7
XM_011514072.2:c.1470_1473dup	XP_011512374.1:p.Ser492ArgfsTer7
XM_011514073.2:c.1470_1473dup	XP_011512375.1:p.Ser492ArgfsTer7
XM_017009685.2:c.1470_1473dup	XP_016865174.1:p.Ser492ArgfsTer7
XM_024446143.1:c.1326_1329dup	XP_024301911.1:p.Ser444ArgfsTer7
XR_002956167.1:n.1517_1520dup
NM_004168.4:c.1470_1473dup MANE Select	NP_004159.2:p.Ser492ArgfsTer7
NM_001294332.2:c.1326_1329dup	NP_001281261.1:p.Ser444ArgfsTer7
NM_001330758.2:c.1470_1473dup	NP_001317687.1:p.Ser492ArgfsTer7