Canonical Allele Identifier: CA3173253

Gene: SDHA

Linked Data

• ClinVar Variation Id: 1601678
• ClinVar RCV Id: RCV002136909 ; RCV004543829
• dbSNP Id: rs769594966
• ExAC: 5:240457 C / CT
• gnomAD v2: 5-240457-C-CT
• gnomAD v3: 5-240342-C-CT
• gnomAD v4: 5-240342-C-CT
• MyVariant Identifiers: chr5:g.240458_240459insT (hg19) ; chr5:g.240457_240458insT (hg19) ; chr5:g.240343_240344insT (hg38) ; chr5:g.240342_240343insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.240350dup , CM000667.2:g.240350dup	GRCh38
NC_000005.9:g.240465dup , CM000667.1:g.240465dup	GRCh37
NC_000005.8:g.293465dup	NCBI36
NG_012339.1:g.27110dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1433-8dup MANE Select	ENSP00000264932.6:n.1433-8dup
ENST00000651543.1:c.*166-8dup	ENSP00000499215.1:n.*166-8dup
ENST00000264932.10:c.1433-8dup	ENSP00000264932.6:n.1433-8dup
ENST00000504309.5:c.1433-8dup	ENSP00000426514.1:n.1433-8dup
ENST00000505555.5:n.1473-8dup
ENST00000510361.5:c.1289-8dup	ENSP00000427703.1:n.1289-8dup
ENST00000511810.5:n.2180-8dup
ENST00000514027.5:n.1388-8dup
ENST00000515752.5:n.1019-8dup
ENST00000515815.5:c.88-8dup
ENST00000617470.4:c.998-8dup	ENSP00000484230.1:n.998-8dup
NM_001294332.1:c.1289-8dup	NP_001281261.1:n.1289-8dup
NM_004168.3:c.1433-8dup	NP_004159.2:n.1433-8dup
XM_005248331.2:c.1433-8dup	XP_005248388.1:n.1433-8dup
XM_011514072.1:c.1433-8dup	XP_011512374.1:n.1433-8dup
XM_011514073.1:c.1433-8dup	XP_011512375.1:n.1433-8dup
XR_925638.1:n.1566-8dup
NM_001330758.1:c.1433-8dup	NP_001317687.1:n.1433-8dup
XM_011514072.2:c.1433-8dup	XP_011512374.1:n.1433-8dup
XM_011514073.2:c.1433-8dup	XP_011512375.1:n.1433-8dup
XM_017009685.2:c.1433-8dup	XP_016865174.1:n.1433-8dup
XM_024446143.1:c.1289-8dup	XP_024301911.1:n.1289-8dup
XR_002956167.1:n.1480-8dup
NM_004168.4:c.1433-8dup MANE Select	NP_004159.2:n.1433-8dup
NM_001294332.2:c.1289-8dup	NP_001281261.1:n.1289-8dup
NM_001330758.2:c.1433-8dup	NP_001317687.1:n.1433-8dup