Canonical Allele Identifier: CA359013037

Gene: SDHA

Linked Data

• ClinVar Variation Id: 1525982
• ClinVar RCV Id: RCV002051596
• dbSNP Id: rs1579402807
• MyVariant Identifiers: chr5:g.233761G>A (hg19) ; chr5:g.233646G>A (hg38)
• MutSpliceDB: CA359013037

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.233646G>A , CM000667.2:g.233646G>A	GRCh38
NC_000005.9:g.233761G>A , CM000667.1:g.233761G>A	GRCh37
NC_000005.8:g.286761G>A	NCBI36
NG_012339.1:g.20406G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.11:c.1064+1G>A MANE Select	ENSP00000264932.6:n.1064+1G>A
ENST00000651543.1:c.1064+1G>A	ENSP00000499215.1:n.1064+1G>A
ENST00000264932.10:c.1064+1G>A	ENSP00000264932.6:n.1064+1G>A
ENST00000504309.5:c.1064+1G>A	ENSP00000426514.1:n.1064+1G>A
ENST00000504824.5:n.1049+1G>A
ENST00000505555.5:n.1104+1G>A
ENST00000510361.5:c.920+1G>A	ENSP00000427703.1:n.920+1G>A
ENST00000512962.5:n.228G>A
ENST00000514027.5:n.1019+1G>A
ENST00000515752.5:n.228G>A
ENST00000617470.4:c.629+1G>A	ENSP00000484230.1:n.629+1G>A
NM_001294332.1:c.920+1G>A	NP_001281261.1:n.920+1G>A
NM_004168.3:c.1064+1G>A	NP_004159.2:n.1064+1G>A
XM_005248331.2:c.1064+1G>A	XP_005248388.1:n.1064+1G>A
XM_011514072.1:c.1064+1G>A	XP_011512374.1:n.1064+1G>A
XM_011514073.1:c.1064+1G>A	XP_011512375.1:n.1064+1G>A
XR_925638.1:n.1197+1G>A
NM_001330758.1:c.1064+1G>A	NP_001317687.1:n.1064+1G>A
XM_011514072.2:c.1064+1G>A	XP_011512374.1:n.1064+1G>A
XM_011514073.2:c.1064+1G>A	XP_011512375.1:n.1064+1G>A
XM_017009685.2:c.1064+1G>A	XP_016865174.1:n.1064+1G>A
XM_024446143.1:c.920+1G>A	XP_024301911.1:n.920+1G>A
XR_002956167.1:n.1111+1G>A
NM_004168.4:c.1064+1G>A MANE Select	NP_004159.2:n.1064+1G>A
NM_001294332.2:c.920+1G>A	NP_001281261.1:n.920+1G>A
NM_001330758.2:c.1064+1G>A	NP_001317687.1:n.1064+1G>A