Canonical Allele Identifier: CA206847

Gene: SDHA

Linked Data

• ClinVar Variation Id: 212143
• ClinVar RCV Id: RCV000193391 ; RCV000226464 ; RCV000410380 ; RCV000573905 ; RCV001093473
• dbSNP Id: rs371056571
• ExAC: 5:251146 G / A
• gnomAD v2: 5-251146-G-A
• gnomAD v3: 5-251031-G-A
• gnomAD v4: 5-251031-G-A
• COSMIC: COSM1436971
• MyVariant Identifiers: chr5:g.251146G>A (hg19) ; chr5:g.251031G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.251031G>A , CM000667.2:g.251031G>A	GRCh38
NC_000005.9:g.251146G>A , CM000667.1:g.251146G>A	GRCh37
NC_000005.8:g.304146G>A	NCBI36
NG_012339.1:g.37791G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1591G>A MANE Select	ENSP00000264932.6:p.Val531Met
ENST00000651543.1:c.*324G>A	ENSP00000499215.1:n.*324G>A
ENST00000264932.10:c.1591G>A	ENSP00000264932.6:p.Val531Met
ENST00000503674.5:n.1763G>A
ENST00000504309.5:c.1552-3362G>A	ENSP00000426514.1:n.1552-3362G>A
ENST00000505555.5:n.1631G>A
ENST00000507266.1:n.338G>A
ENST00000509082.1:n.73G>A
ENST00000510361.5:c.1447G>A	ENSP00000427703.1:p.Val483Met
ENST00000511810.5:n.2338G>A
ENST00000514027.5:n.1546G>A
ENST00000515752.5:n.1177G>A
ENST00000515815.5:c.207-3327G>A
ENST00000617470.4:c.1156G>A	ENSP00000484230.1:p.Val386Met
NM_001294332.1:c.1447G>A	NP_001281261.1:p.Val483Met
NM_004168.3:c.1591G>A	NP_004159.2:p.Val531Met
XM_005248331.2:c.1552-3362G>A	XP_005248388.1:n.1552-3362G>A
XM_011514072.1:c.1591G>A	XP_011512374.1:p.Val531Met
XM_011514073.1:c.1552-3362G>A	XP_011512375.1:n.1552-3362G>A
XR_925638.1:n.1724G>A
NM_001330758.1:c.1552-3362G>A	NP_001317687.1:n.1552-3362G>A
XM_011514072.2:c.1591G>A	XP_011512374.1:p.Val531Met
XM_011514073.2:c.1552-3362G>A	XP_011512375.1:n.1552-3362G>A
XM_017009685.2:c.1591G>A	XP_016865174.1:p.Val531Met
XM_024446143.1:c.1447G>A	XP_024301911.1:p.Val483Met
XR_002956167.1:n.1638G>A
NM_004168.4:c.1591G>A MANE Select	NP_004159.2:p.Val531Met
NM_001294332.2:c.1447G>A	NP_001281261.1:p.Val483Met
NM_001330758.2:c.1552-3362G>A	NP_001317687.1:n.1552-3362G>A