Canonical Allele Identifier: CA442692253

Gene: SDHA

Linked Data

• ClinVar Variation Id: 1774690
• ClinVar RCV Id: RCV002403017
• dbSNP Id: rs748089700
• MyVariant Identifiers: chr5:g.240574C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.240459C>A , CM000667.2:g.240459C>A	GRCh38
NC_000005.9:g.240574C>A , CM000667.1:g.240574C>A	GRCh37
NC_000005.8:g.293574C>A	NCBI36
NG_012339.1:g.27219C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.11:c.1534C>A MANE Select	ENSP00000264932.6:p.Arg512=
ENST00000651543.1:c.*267C>A	ENSP00000499215.1:n.*267C>A
ENST00000264932.10:c.1534C>A	ENSP00000264932.6:p.Arg512=
ENST00000504309.5:c.1534C>A	ENSP00000426514.1:p.Arg512=
ENST00000505555.5:n.1574C>A
ENST00000509082.1:n.16C>A
ENST00000510361.5:c.1390C>A	ENSP00000427703.1:p.Arg464=
ENST00000511810.5:n.2281C>A
ENST00000514027.5:n.1489C>A
ENST00000515752.5:n.1120C>A
ENST00000515815.5:c.189C>A
ENST00000617470.4:c.1099C>A	ENSP00000484230.1:p.Arg367=
NM_001294332.1:c.1390C>A	NP_001281261.1:p.Arg464=
NM_004168.3:c.1534C>A	NP_004159.2:p.Arg512=
XM_005248331.2:c.1534C>A	XP_005248388.1:p.Arg512=
XM_011514072.1:c.1534C>A	XP_011512374.1:p.Arg512=
XM_011514073.1:c.1534C>A	XP_011512375.1:p.Arg512=
XR_925638.1:n.1667C>A
NM_001330758.1:c.1534C>A	NP_001317687.1:p.Arg512=
XM_011514072.2:c.1534C>A	XP_011512374.1:p.Arg512=
XM_011514073.2:c.1534C>A	XP_011512375.1:p.Arg512=
XM_017009685.2:c.1534C>A	XP_016865174.1:p.Arg512=
XM_024446143.1:c.1390C>A	XP_024301911.1:p.Arg464=
XR_002956167.1:n.1581C>A
NM_004168.4:c.1534C>A MANE Select	NP_004159.2:p.Arg512=
NM_001294332.2:c.1390C>A	NP_001281261.1:p.Arg464=
NM_001330758.2:c.1534C>A	NP_001317687.1:p.Arg512=