Canonical Allele Identifier: CA112817402

Gene: SDHA

Linked Data

• ClinVar Variation Id: 441034
• ClinVar RCV Id: RCV000509324
• dbSNP Id: rs41495051
• gnomAD v3: 5-228248-G-A
• gnomAD v4: 5-228248-G-A
• MyVariant Identifiers: chr5:g.228363G>A (hg19) ; chr5:g.228248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.228248G>A , CM000667.2:g.228248G>A	GRCh38
NC_000005.9:g.228363G>A , CM000667.1:g.228363G>A	GRCh37
NC_000005.8:g.281363G>A	NCBI36
NG_012339.1:g.15008G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.11:c.685G>A MANE Select	ENSP00000264932.6:p.Gly229Arg
ENST00000651543.1:c.685G>A	ENSP00000499215.1:p.Gly229Arg
ENST00000264932.10:c.685G>A	ENSP00000264932.6:p.Gly229Arg
ENST00000504309.5:c.685G>A	ENSP00000426514.1:p.Gly229Arg
ENST00000504824.5:n.670G>A
ENST00000505555.5:n.725G>A
ENST00000509420.5:n.479G>A
ENST00000510361.5:c.541G>A	ENSP00000427703.1:p.Gly181Arg
ENST00000514027.5:n.640G>A
ENST00000514233.1:n.195G>A
ENST00000617470.4:c.381-2673G>A	ENSP00000484230.1:n.381-2673G>A
NM_001294332.1:c.541G>A	NP_001281261.1:p.Gly181Arg
NM_004168.3:c.685G>A	NP_004159.2:p.Gly229Arg
XM_005248331.2:c.685G>A	XP_005248388.1:p.Gly229Arg
XM_011514072.1:c.685G>A	XP_011512374.1:p.Gly229Arg
XM_011514073.1:c.685G>A	XP_011512375.1:p.Gly229Arg
XR_925638.1:n.818G>A
NM_001330758.1:c.685G>A	NP_001317687.1:p.Gly229Arg
XM_011514072.2:c.685G>A	XP_011512374.1:p.Gly229Arg
XM_011514073.2:c.685G>A	XP_011512375.1:p.Gly229Arg
XM_017009685.2:c.685G>A	XP_016865174.1:p.Gly229Arg
XM_024446143.1:c.541G>A	XP_024301911.1:p.Gly181Arg
XR_002956167.1:n.732G>A
NM_004168.4:c.685G>A MANE Select	NP_004159.2:p.Gly229Arg
NM_001294332.2:c.541G>A	NP_001281261.1:p.Gly181Arg
NM_001330758.2:c.685G>A	NP_001317687.1:p.Gly229Arg