Canonical Allele Identifier: CA3173266

Gene: SDHA

Linked Data

• ClinVar Variation Id: 417252
• ClinVar RCV Id: RCV000473824 ; RCV000573305 ; RCV001152360 ; RCV001152358 ; RCV001152359 ; RCV003478054
• dbSNP Id: rs746453879
• ExAC: 5:240567 G / A
• gnomAD v2: 5-240567-G-A
• gnomAD v3: 5-240452-G-A
• gnomAD v4: 5-240452-G-A
• MyVariant Identifiers: chr5:g.240567G>A (hg19) ; chr5:g.240452G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.240452G>A , CM000667.2:g.240452G>A	GRCh38
NC_000005.9:g.240567G>A , CM000667.1:g.240567G>A	GRCh37
NC_000005.8:g.293567G>A	NCBI36
NG_012339.1:g.27212G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1527G>A MANE Select	ENSP00000264932.6:p.Ser509=
ENST00000651543.1:c.*260G>A	ENSP00000499215.1:n.*260G>A
ENST00000264932.10:c.1527G>A	ENSP00000264932.6:p.Ser509=
ENST00000504309.5:c.1527G>A	ENSP00000426514.1:p.Ser509=
ENST00000505555.5:n.1567G>A
ENST00000509082.1:n.9G>A
ENST00000510361.5:c.1383G>A	ENSP00000427703.1:p.Ser461=
ENST00000511810.5:n.2274G>A
ENST00000514027.5:n.1482G>A
ENST00000515752.5:n.1113G>A
ENST00000515815.5:c.182G>A
ENST00000617470.4:c.1092G>A	ENSP00000484230.1:p.Ser364=
NM_001294332.1:c.1383G>A	NP_001281261.1:p.Ser461=
NM_004168.3:c.1527G>A	NP_004159.2:p.Ser509=
XM_005248331.2:c.1527G>A	XP_005248388.1:p.Ser509=
XM_011514072.1:c.1527G>A	XP_011512374.1:p.Ser509=
XM_011514073.1:c.1527G>A	XP_011512375.1:p.Ser509=
XR_925638.1:n.1660G>A
NM_001330758.1:c.1527G>A	NP_001317687.1:p.Ser509=
XM_011514072.2:c.1527G>A	XP_011512374.1:p.Ser509=
XM_011514073.2:c.1527G>A	XP_011512375.1:p.Ser509=
XM_017009685.2:c.1527G>A	XP_016865174.1:p.Ser509=
XM_024446143.1:c.1383G>A	XP_024301911.1:p.Ser461=
XR_002956167.1:n.1574G>A
NM_004168.4:c.1527G>A MANE Select	NP_004159.2:p.Ser509=
NM_001294332.2:c.1383G>A	NP_001281261.1:p.Ser461=
NM_001330758.2:c.1527G>A	NP_001317687.1:p.Ser509=