Canonical Allele Identifier: CA16611838

Gene: SDHA

Linked Data

• ClinVar Variation Id: 412387
• ClinVar RCV Id: RCV000468097 ; RCV000662791 ; RCV000575963 ; RCV003313078
• dbSNP Id: rs878854638
• gnomAD v3: 5-233495-G-A
• gnomAD v4: 5-233495-G-A
• MyVariant Identifiers: chr5:g.233610G>A (hg19) ; chr5:g.233495G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.233495G>A , CM000667.2:g.233495G>A	GRCh38
NC_000005.9:g.233610G>A , CM000667.1:g.233610G>A	GRCh37
NC_000005.8:g.286610G>A	NCBI36
NG_012339.1:g.20255G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.914G>A MANE Select	ENSP00000264932.6:p.Cys305Tyr
ENST00000651543.1:c.914G>A	ENSP00000499215.1:p.Cys305Tyr
ENST00000264932.10:c.914G>A	ENSP00000264932.6:p.Cys305Tyr
ENST00000504309.5:c.914G>A	ENSP00000426514.1:p.Cys305Tyr
ENST00000504824.5:n.899G>A
ENST00000505555.5:n.954G>A
ENST00000510361.5:c.770G>A	ENSP00000427703.1:p.Cys257Tyr
ENST00000512962.5:n.77G>A
ENST00000514027.5:n.869G>A
ENST00000514233.1:n.424G>A
ENST00000515752.5:n.77G>A
ENST00000617470.4:c.479G>A	ENSP00000484230.1:p.Cys160Tyr
NM_001294332.1:c.770G>A	NP_001281261.1:p.Cys257Tyr
NM_004168.3:c.914G>A	NP_004159.2:p.Cys305Tyr
XM_005248331.2:c.914G>A	XP_005248388.1:p.Cys305Tyr
XM_011514072.1:c.914G>A	XP_011512374.1:p.Cys305Tyr
XM_011514073.1:c.914G>A	XP_011512375.1:p.Cys305Tyr
XR_925638.1:n.1047G>A
NM_001330758.1:c.914G>A	NP_001317687.1:p.Cys305Tyr
XM_011514072.2:c.914G>A	XP_011512374.1:p.Cys305Tyr
XM_011514073.2:c.914G>A	XP_011512375.1:p.Cys305Tyr
XM_017009685.2:c.914G>A	XP_016865174.1:p.Cys305Tyr
XM_024446143.1:c.770G>A	XP_024301911.1:p.Cys257Tyr
XR_002956167.1:n.961G>A
NM_004168.4:c.914G>A MANE Select	NP_004159.2:p.Cys305Tyr
NM_001294332.2:c.770G>A	NP_001281261.1:p.Cys257Tyr
NM_001330758.2:c.914G>A	NP_001317687.1:p.Cys305Tyr