Canonical Allele Identifier: CA359014142

Gene: SDHA

Linked Data

• ClinVar Variation Id: 1345263
• ClinVar RCV Id: RCV002037154
• dbSNP Id: rs878854628
• MyVariant Identifiers: chr5:g.236715G>T (hg19) ; chr5:g.236600G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.236600G>T , CM000667.2:g.236600G>T	GRCh38
NC_000005.9:g.236715G>T , CM000667.1:g.236715G>T	GRCh37
NC_000005.8:g.289715G>T	NCBI36
NG_012339.1:g.23360G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.11:c.1432+1G>T MANE Select	ENSP00000264932.6:n.1432+1G>T
ENST00000651543.1:c.*165+1G>T	ENSP00000499215.1:n.*165+1G>T
ENST00000264932.10:c.1432+1G>T	ENSP00000264932.6:n.1432+1G>T
ENST00000504309.5:c.1432+1G>T	ENSP00000426514.1:n.1432+1G>T
ENST00000505555.5:n.1472+1G>T
ENST00000510361.5:c.1288+1G>T	ENSP00000427703.1:n.1288+1G>T
ENST00000511810.5:n.2179+1G>T
ENST00000514027.5:n.1387+1G>T
ENST00000515752.5:n.1018+1G>T
ENST00000515815.5:c.87+1G>T
ENST00000617470.4:c.997+1G>T	ENSP00000484230.1:n.997+1G>T
NM_001294332.1:c.1288+1G>T	NP_001281261.1:n.1288+1G>T
NM_004168.3:c.1432+1G>T	NP_004159.2:n.1432+1G>T
XM_005248331.2:c.1432+1G>T	XP_005248388.1:n.1432+1G>T
XM_011514072.1:c.1432+1G>T	XP_011512374.1:n.1432+1G>T
XM_011514073.1:c.1432+1G>T	XP_011512375.1:n.1432+1G>T
XR_925638.1:n.1565+1G>T
NM_001330758.1:c.1432+1G>T	NP_001317687.1:n.1432+1G>T
XM_011514072.2:c.1432+1G>T	XP_011512374.1:n.1432+1G>T
XM_011514073.2:c.1432+1G>T	XP_011512375.1:n.1432+1G>T
XM_017009685.2:c.1432+1G>T	XP_016865174.1:n.1432+1G>T
XM_024446143.1:c.1288+1G>T	XP_024301911.1:n.1288+1G>T
XR_002956167.1:n.1479+1G>T
NM_004168.4:c.1432+1G>T MANE Select	NP_004159.2:n.1432+1G>T
NM_001294332.2:c.1288+1G>T	NP_001281261.1:n.1288+1G>T
NM_001330758.2:c.1432+1G>T	NP_001317687.1:n.1432+1G>T