Canonical Allele Identifier: CA3173134

Gene: SDHA

Linked Data

• ClinVar Variation Id: 472306
• ClinVar RCV Id: RCV000541698 ; RCV001010227 ; RCV001156143 ; RCV001156144 ; RCV001157830
• dbSNP Id: rs778667374
• ExAC: 5:235382 G / A
• gnomAD v2: 5-235382-G-A
• gnomAD v3: 5-235267-G-A
• gnomAD v4: 5-235267-G-A
• COSMIC: COSM1067099
• MyVariant Identifiers: chr5:g.235382G>A (hg19) ; chr5:g.235267G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.235267G>A , CM000667.2:g.235267G>A	GRCh38
NC_000005.9:g.235382G>A , CM000667.1:g.235382G>A	GRCh37
NC_000005.8:g.288382G>A	NCBI36
NG_012339.1:g.22027G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1188G>A MANE Select	ENSP00000264932.6:p.Thr396=
ENST00000651543.1:c.1065-1161G>A	ENSP00000499215.1:n.1065-1161G>A
ENST00000264932.10:c.1188G>A	ENSP00000264932.6:p.Thr396=
ENST00000504309.5:c.1188G>A	ENSP00000426514.1:p.Thr396=
ENST00000504824.5:n.1173G>A
ENST00000505555.5:n.1228G>A
ENST00000510361.5:c.1044G>A	ENSP00000427703.1:p.Thr348=
ENST00000511810.5:n.847G>A
ENST00000512962.5:n.721-1035G>A
ENST00000514027.5:n.1143G>A
ENST00000515752.5:n.721-1035G>A
ENST00000617470.4:c.753G>A	ENSP00000484230.1:p.Thr251=
NM_001294332.1:c.1044G>A	NP_001281261.1:p.Thr348=
NM_004168.3:c.1188G>A	NP_004159.2:p.Thr396=
XM_005248331.2:c.1188G>A	XP_005248388.1:p.Thr396=
XM_011514072.1:c.1188G>A	XP_011512374.1:p.Thr396=
XM_011514073.1:c.1188G>A	XP_011512375.1:p.Thr396=
XR_925638.1:n.1321G>A
NM_001330758.1:c.1188G>A	NP_001317687.1:p.Thr396=
XM_011514072.2:c.1188G>A	XP_011512374.1:p.Thr396=
XM_011514073.2:c.1188G>A	XP_011512375.1:p.Thr396=
XM_017009685.2:c.1188G>A	XP_016865174.1:p.Thr396=
XM_024446143.1:c.1044G>A	XP_024301911.1:p.Thr348=
XR_002956167.1:n.1235G>A
NM_004168.4:c.1188G>A MANE Select	NP_004159.2:p.Thr396=
NM_001294332.2:c.1044G>A	NP_001281261.1:p.Thr348=
NM_001330758.2:c.1188G>A	NP_001317687.1:p.Thr396=