Canonical Allele Identifier: CA3173463

Gene: SDHA

Linked Data

• ClinVar Variation Id: 412359
• ClinVar RCV Id: RCV000475448 ; RCV000662992 ; RCV002411517 ; RCV002251478 ; RCV004533204 ; RCV003476126
• dbSNP Id: rs3211483
• ExAC: 5:256470 G / A
• gnomAD v2: 5-256470-G-A
• gnomAD v3: 5-256355-G-A
• gnomAD v4: 5-256355-G-A
• MyVariant Identifiers: chr5:g.256470G>A (hg19) ; chr5:g.256355G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.256355G>A , CM000667.2:g.256355G>A	GRCh38
NC_000005.9:g.256470G>A , CM000667.1:g.256470G>A	GRCh37
NC_000005.8:g.309470G>A	NCBI36
NG_012339.1:g.43115G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1930G>A MANE Select	ENSP00000264932.6:p.Val644Met
ENST00000651543.1:c.*663G>A	ENSP00000499215.1:n.*663G>A
ENST00000264932.10:c.1930G>A	ENSP00000264932.6:p.Val644Met
ENST00000503674.5:n.2102G>A
ENST00000504309.5:c.1687G>A	ENSP00000426514.1:p.Val563Met
ENST00000507522.1:n.320G>A
ENST00000509082.1:n.107G>A
ENST00000509564.1:c.303G>A	ENSP00000421911.1:p.Pro101=
ENST00000510361.5:c.1786G>A	ENSP00000427703.1:p.Val596Met
ENST00000511810.5:n.2677G>A
ENST00000514027.5:n.1885G>A
ENST00000515752.5:n.1516G>A
ENST00000515815.5:c.377G>A
ENST00000617470.4:c.1495G>A	ENSP00000484230.1:p.Val499Met
NM_001294332.1:c.1786G>A	NP_001281261.1:p.Val596Met
NM_004168.3:c.1930G>A	NP_004159.2:p.Val644Met
XM_005248331.2:c.1687G>A	XP_005248388.1:p.Val563Met
XM_011514072.1:c.1908+1849G>A	XP_011512374.1:n.1908+1849G>A
XM_011514073.1:c.1665+1849G>A	XP_011512375.1:n.1665+1849G>A
XR_925638.1:n.2041+1849G>A
NM_001330758.1:c.1687G>A	NP_001317687.1:p.Val563Met
XM_011514072.2:c.1908+1849G>A	XP_011512374.1:n.1908+1849G>A
XM_011514073.2:c.1665+1849G>A	XP_011512375.1:n.1665+1849G>A
XM_017009685.2:c.*1399G>A	XP_016865174.1:n.*1399G>A
XM_024446143.1:c.*1399G>A	XP_024301911.1:n.*1399G>A
XR_002956167.1:n.4901G>A
NM_004168.4:c.1930G>A MANE Select	NP_004159.2:p.Val644Met
NM_001294332.2:c.1786G>A	NP_001281261.1:p.Val596Met
NM_001330758.2:c.1687G>A	NP_001317687.1:p.Val563Met