Canonical Allele Identifier: CA557114020

Gene: SDHA

Linked Data

• ClinVar Variation Id: 769642
• ClinVar RCV Id: RCV000948691
• dbSNP Id: rs1293856379
• gnomAD v2: 5-240466-G-T
• gnomAD v3: 5-240351-G-T
• gnomAD v4: 5-240351-G-T
• MyVariant Identifiers: chr5:g.240466G>T (hg19) ; chr5:g.240351G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.240351G>T , CM000667.2:g.240351G>T	GRCh38
NC_000005.9:g.240466G>T , CM000667.1:g.240466G>T	GRCh37
NC_000005.8:g.293466G>T	NCBI36
NG_012339.1:g.27111G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.11:c.1433-7G>T MANE Select	ENSP00000264932.6:n.1433-7G>T
ENST00000651543.1:c.*166-7G>T	ENSP00000499215.1:n.*166-7G>T
ENST00000264932.10:c.1433-7G>T	ENSP00000264932.6:n.1433-7G>T
ENST00000504309.5:c.1433-7G>T	ENSP00000426514.1:n.1433-7G>T
ENST00000505555.5:n.1473-7G>T
ENST00000510361.5:c.1289-7G>T	ENSP00000427703.1:n.1289-7G>T
ENST00000511810.5:n.2180-7G>T
ENST00000514027.5:n.1388-7G>T
ENST00000515752.5:n.1019-7G>T
ENST00000515815.5:c.88-7G>T
ENST00000617470.4:c.998-7G>T	ENSP00000484230.1:n.998-7G>T
NM_001294332.1:c.1289-7G>T	NP_001281261.1:n.1289-7G>T
NM_004168.3:c.1433-7G>T	NP_004159.2:n.1433-7G>T
XM_005248331.2:c.1433-7G>T	XP_005248388.1:n.1433-7G>T
XM_011514072.1:c.1433-7G>T	XP_011512374.1:n.1433-7G>T
XM_011514073.1:c.1433-7G>T	XP_011512375.1:n.1433-7G>T
XR_925638.1:n.1566-7G>T
NM_001330758.1:c.1433-7G>T	NP_001317687.1:n.1433-7G>T
XM_011514072.2:c.1433-7G>T	XP_011512374.1:n.1433-7G>T
XM_011514073.2:c.1433-7G>T	XP_011512375.1:n.1433-7G>T
XM_017009685.2:c.1433-7G>T	XP_016865174.1:n.1433-7G>T
XM_024446143.1:c.1289-7G>T	XP_024301911.1:n.1289-7G>T
XR_002956167.1:n.1480-7G>T
NM_004168.4:c.1433-7G>T MANE Select	NP_004159.2:n.1433-7G>T
NM_001294332.2:c.1289-7G>T	NP_001281261.1:n.1289-7G>T
NM_001330758.2:c.1433-7G>T	NP_001317687.1:n.1433-7G>T