Canonical Allele Identifier: CA3173461

Gene: SDHA

Linked Data

• ClinVar Variation Id: 252908
• ClinVar RCV Id: RCV000239361 ; RCV000574591 ; RCV000663177 ; RCV000836807 ; RCV000765835
• dbSNP Id: rs372480044
• ExAC: 5:256459 A / G
• gnomAD v2: 5-256459-A-G
• gnomAD v3: 5-256344-A-G
• gnomAD v4: 5-256344-A-G
• MyVariant Identifiers: chr5:g.256459A>G (hg19) ; chr5:g.256344A>G (hg38)
• PubMed: PMID:17376234 ; PMID:27493882

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.256344A>G , CM000667.2:g.256344A>G	GRCh38
NC_000005.9:g.256459A>G , CM000667.1:g.256459A>G	GRCh37
NC_000005.8:g.309459A>G	NCBI36
NG_012339.1:g.43104A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1919A>G MANE Select	ENSP00000264932.6:p.Glu640Gly
ENST00000651543.1:c.*652A>G	ENSP00000499215.1:n.*652A>G
ENST00000264932.10:c.1919A>G	ENSP00000264932.6:p.Glu640Gly
ENST00000503674.5:n.2091A>G
ENST00000504309.5:c.1676A>G	ENSP00000426514.1:p.Glu559Gly
ENST00000507522.1:n.316-7A>G
ENST00000509082.1:n.96A>G
ENST00000509564.1:c.292A>G	ENSP00000421911.1:p.Asn98Asp
ENST00000510361.5:c.1775A>G	ENSP00000427703.1:p.Glu592Gly
ENST00000511810.5:n.2666A>G
ENST00000514027.5:n.1874A>G
ENST00000515752.5:n.1505A>G
ENST00000515815.5:c.366A>G
ENST00000617470.4:c.1484A>G	ENSP00000484230.1:p.Glu495Gly
NM_001294332.1:c.1775A>G	NP_001281261.1:p.Glu592Gly
NM_004168.3:c.1919A>G	NP_004159.2:p.Glu640Gly
XM_005248331.2:c.1676A>G	XP_005248388.1:p.Glu559Gly
XM_011514072.1:c.1908+1838A>G	XP_011512374.1:n.1908+1838A>G
XM_011514073.1:c.1665+1838A>G	XP_011512375.1:n.1665+1838A>G
XR_925638.1:n.2041+1838A>G
NM_001330758.1:c.1676A>G	NP_001317687.1:p.Glu559Gly
XM_011514072.2:c.1908+1838A>G	XP_011512374.1:n.1908+1838A>G
XM_011514073.2:c.1665+1838A>G	XP_011512375.1:n.1665+1838A>G
XM_017009685.2:c.*1388A>G	XP_016865174.1:n.*1388A>G
XM_024446143.1:c.*1388A>G	XP_024301911.1:n.*1388A>G
XR_002956167.1:n.4890A>G
NM_004168.4:c.1919A>G MANE Select	NP_004159.2:p.Glu640Gly
NM_001294332.2:c.1775A>G	NP_001281261.1:p.Glu592Gly
NM_001330758.2:c.1676A>G	NP_001317687.1:p.Glu559Gly