Canonical Allele Identifier: CA3173017

Gene: SDHA

Linked Data

• ClinVar Variation Id: 390626
• ClinVar RCV Id: RCV000440704 ; RCV000662985 ; RCV001157730 ; RCV001157731 ; RCV001157732 ; RCV002256236
• dbSNP Id: rs201461936
• ExAC: 5:231128 G / A
• gnomAD v2: 5-231128-G-A
• gnomAD v3: 5-231013-G-A
• gnomAD v4: 5-231013-G-A
• MyVariant Identifiers: chr5:g.231128G>A (hg19) ; chr5:g.231013G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.231013G>A , CM000667.2:g.231013G>A	GRCh38
NC_000005.9:g.231128G>A , CM000667.1:g.231128G>A	GRCh37
NC_000005.8:g.284128G>A	NCBI36
NG_012339.1:g.17773G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.895+13G>A MANE Select	ENSP00000264932.6:n.895+13G>A
ENST00000651543.1:c.895+13G>A	ENSP00000499215.1:n.895+13G>A
ENST00000264932.10:c.895+13G>A	ENSP00000264932.6:n.895+13G>A
ENST00000504309.5:c.895+13G>A	ENSP00000426514.1:n.895+13G>A
ENST00000504824.5:n.880+13G>A
ENST00000505555.5:n.935+13G>A
ENST00000510361.5:c.751+13G>A	ENSP00000427703.1:n.751+13G>A
ENST00000512962.5:n.58+13G>A
ENST00000514027.5:n.850+13G>A
ENST00000514233.1:n.405+13G>A
ENST00000515752.5:n.58+13G>A
ENST00000617470.4:c.460+13G>A	ENSP00000484230.1:n.460+13G>A
NM_001294332.1:c.751+13G>A	NP_001281261.1:n.751+13G>A
NM_004168.3:c.895+13G>A	NP_004159.2:n.895+13G>A
XM_005248331.2:c.895+13G>A	XP_005248388.1:n.895+13G>A
XM_011514072.1:c.895+13G>A	XP_011512374.1:n.895+13G>A
XM_011514073.1:c.895+13G>A	XP_011512375.1:n.895+13G>A
XR_925638.1:n.1028+13G>A
NM_001330758.1:c.895+13G>A	NP_001317687.1:n.895+13G>A
XM_011514072.2:c.895+13G>A	XP_011512374.1:n.895+13G>A
XM_011514073.2:c.895+13G>A	XP_011512375.1:n.895+13G>A
XM_017009685.2:c.895+13G>A	XP_016865174.1:n.895+13G>A
XM_024446143.1:c.751+13G>A	XP_024301911.1:n.751+13G>A
XR_002956167.1:n.942+13G>A
NM_004168.4:c.895+13G>A MANE Select	NP_004159.2:n.895+13G>A
NM_001294332.2:c.751+13G>A	NP_001281261.1:n.751+13G>A
NM_001330758.2:c.895+13G>A	NP_001317687.1:n.895+13G>A