Canonical Allele Identifier: CA358585

Gene: SDHA

Linked Data

• ClinVar Variation Id: 224957
• ClinVar RCV Id: RCV000210535 ; RCV000245657 ; RCV000295347 ; RCV000352522 ; RCV000387287 ; RCV000567706 ; RCV000757746 ; RCV001262690 ; RCV003316169
• dbSNP Id: rs34635677
• ExAC: 5:223646 A / T
• gnomAD v2: 5-223646-A-T
• gnomAD v3: 5-223531-A-T
• gnomAD v4: 5-223531-A-T
• MyVariant Identifiers: chr5:g.223646A>T (hg19) ; chr5:g.223531A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.223531A>T , CM000667.2:g.223531A>T	GRCh38
NC_000005.9:g.223646A>T , CM000667.1:g.223646A>T	GRCh37
NC_000005.8:g.276646A>T	NCBI36
NG_012339.1:g.10291A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.11:c.113A>T MANE Select	ENSP00000264932.6:p.Asp38Val
ENST00000651543.1:c.113A>T	ENSP00000499215.1:p.Asp38Val
ENST00000264932.10:c.113A>T	ENSP00000264932.6:p.Asp38Val
ENST00000502379.5:n.158A>T
ENST00000504309.5:c.113A>T	ENSP00000426514.1:p.Asp38Val
ENST00000504824.5:n.98A>T
ENST00000505555.5:n.153A>T
ENST00000509632.5:c.211A>T	ENSP00000425077.1:p.Met71Leu
ENST00000510361.5:c.113A>T	ENSP00000427703.1:p.Asp38Val
ENST00000617470.4:c.113A>T	ENSP00000484230.1:p.Asp38Val
NM_001294332.1:c.113A>T	NP_001281261.1:p.Asp38Val
NM_004168.3:c.113A>T	NP_004159.2:p.Asp38Val
XM_005248331.2:c.113A>T	XP_005248388.1:p.Asp38Val
XM_011514072.1:c.113A>T	XP_011512374.1:p.Asp38Val
XM_011514073.1:c.113A>T	XP_011512375.1:p.Asp38Val
XR_925638.1:n.246A>T
NM_001330758.1:c.113A>T	NP_001317687.1:p.Asp38Val
XM_011514072.2:c.113A>T	XP_011512374.1:p.Asp38Val
XM_011514073.2:c.113A>T	XP_011512375.1:p.Asp38Val
XM_017009685.2:c.113A>T	XP_016865174.1:p.Asp38Val
XM_024446143.1:c.113A>T	XP_024301911.1:p.Asp38Val
XR_002956167.1:n.160A>T
NM_004168.4:c.113A>T MANE Select	NP_004159.2:p.Asp38Val
NM_001294332.2:c.113A>T	NP_001281261.1:p.Asp38Val
NM_001330758.2:c.113A>T	NP_001317687.1:p.Asp38Val