Canonical Allele Identifier: CA3172883

Gene: SDHA

Linked Data

• ClinVar Variation Id: 472396
• ClinVar RCV Id: RCV000544157
• dbSNP Id: rs762956849
• ExAC: 5:226125 G / A
• gnomAD v2: 5-226125-G-A
• gnomAD v3: 5-226010-G-A
• gnomAD v4: 5-226010-G-A
• MyVariant Identifiers: chr5:g.226125G>A (hg19) ; chr5:g.226010G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.226010G>A , CM000667.2:g.226010G>A	GRCh38
NC_000005.9:g.226125G>A , CM000667.1:g.226125G>A	GRCh37
NC_000005.8:g.279125G>A	NCBI36
NG_012339.1:g.12770G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.11:c.584G>A MANE Select	ENSP00000264932.6:p.Arg195Gln
ENST00000651543.1:c.584G>A	ENSP00000499215.1:p.Arg195Gln
ENST00000264932.10:c.584G>A	ENSP00000264932.6:p.Arg195Gln
ENST00000504309.5:c.584G>A	ENSP00000426514.1:p.Arg195Gln
ENST00000504824.5:n.569G>A
ENST00000505555.5:n.624G>A
ENST00000509420.5:n.378G>A
ENST00000510361.5:c.440G>A	ENSP00000427703.1:p.Arg147Gln
ENST00000617470.4:c.380+524G>A	ENSP00000484230.1:n.380+524G>A
NM_001294332.1:c.440G>A	NP_001281261.1:p.Arg147Gln
NM_004168.3:c.584G>A	NP_004159.2:p.Arg195Gln
XM_005248331.2:c.584G>A	XP_005248388.1:p.Arg195Gln
XM_011514072.1:c.584G>A	XP_011512374.1:p.Arg195Gln
XM_011514073.1:c.584G>A	XP_011512375.1:p.Arg195Gln
XR_925638.1:n.717G>A
NM_001330758.1:c.584G>A	NP_001317687.1:p.Arg195Gln
XM_011514072.2:c.584G>A	XP_011512374.1:p.Arg195Gln
XM_011514073.2:c.584G>A	XP_011512375.1:p.Arg195Gln
XM_017009685.2:c.584G>A	XP_016865174.1:p.Arg195Gln
XM_024446143.1:c.440G>A	XP_024301911.1:p.Arg147Gln
XR_002956167.1:n.631G>A
NM_004168.4:c.584G>A MANE Select	NP_004159.2:p.Arg195Gln
NM_001294332.2:c.440G>A	NP_001281261.1:p.Arg147Gln
NM_001330758.2:c.584G>A	NP_001317687.1:p.Arg195Gln