Canonical Allele Identifier: CA16612063

Gene: SDHA

Linked Data

• ClinVar Variation Id: 412372
• ClinVar RCV Id: RCV000459590
• dbSNP Id: rs1060503717
• gnomAD v2: 5-256468-C-G
• gnomAD v3: 5-256353-C-G
• gnomAD v4: 5-256353-C-G
• MyVariant Identifiers: chr5:g.256468C>G (hg19) ; chr5:g.256353C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.256353C>G , CM000667.2:g.256353C>G	GRCh38
NC_000005.9:g.256468C>G , CM000667.1:g.256468C>G	GRCh37
NC_000005.8:g.309468C>G	NCBI36
NG_012339.1:g.43113C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.11:c.1928C>G MANE Select	ENSP00000264932.6:p.Pro643Arg
ENST00000651543.1:c.*661C>G	ENSP00000499215.1:n.*661C>G
ENST00000264932.10:c.1928C>G	ENSP00000264932.6:p.Pro643Arg
ENST00000503674.5:n.2100C>G
ENST00000504309.5:c.1685C>G	ENSP00000426514.1:p.Pro562Arg
ENST00000507522.1:n.318C>G
ENST00000509082.1:n.105C>G
ENST00000509564.1:c.301C>G	ENSP00000421911.1:p.Pro101Ala
ENST00000510361.5:c.1784C>G	ENSP00000427703.1:p.Pro595Arg
ENST00000511810.5:n.2675C>G
ENST00000514027.5:n.1883C>G
ENST00000515752.5:n.1514C>G
ENST00000515815.5:c.375C>G
ENST00000617470.4:c.1493C>G	ENSP00000484230.1:p.Pro498Arg
NM_001294332.1:c.1784C>G	NP_001281261.1:p.Pro595Arg
NM_004168.3:c.1928C>G	NP_004159.2:p.Pro643Arg
XM_005248331.2:c.1685C>G	XP_005248388.1:p.Pro562Arg
XM_011514072.1:c.1908+1847C>G	XP_011512374.1:n.1908+1847C>G
XM_011514073.1:c.1665+1847C>G	XP_011512375.1:n.1665+1847C>G
XR_925638.1:n.2041+1847C>G
NM_001330758.1:c.1685C>G	NP_001317687.1:p.Pro562Arg
XM_011514072.2:c.1908+1847C>G	XP_011512374.1:n.1908+1847C>G
XM_011514073.2:c.1665+1847C>G	XP_011512375.1:n.1665+1847C>G
XM_017009685.2:c.*1397C>G	XP_016865174.1:n.*1397C>G
XM_024446143.1:c.*1397C>G	XP_024301911.1:n.*1397C>G
XR_002956167.1:n.4899C>G
NM_004168.4:c.1928C>G MANE Select	NP_004159.2:p.Pro643Arg
NM_001294332.2:c.1784C>G	NP_001281261.1:p.Pro595Arg
NM_001330758.2:c.1685C>G	NP_001317687.1:p.Pro562Arg