Canonical Allele Identifier: CA3173259

Gene: SDHA

Linked Data

• ClinVar Variation Id: 412393
• ClinVar RCV Id: RCV000468600 ; RCV000562914 ; RCV000714730 ; RCV000714731
• dbSNP Id: rs369100772
• ExAC: 5:240502 G / A
• gnomAD v2: 5-240502-G-A
• gnomAD v3: 5-240387-G-A
• gnomAD v4: 5-240387-G-A
• MyVariant Identifiers: chr5:g.240502G>A (hg19) ; chr5:g.240387G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.240387G>A , CM000667.2:g.240387G>A	GRCh38
NC_000005.9:g.240502G>A , CM000667.1:g.240502G>A	GRCh37
NC_000005.8:g.293502G>A	NCBI36
NG_012339.1:g.27147G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.11:c.1462G>A MANE Select	ENSP00000264932.6:p.Ala488Thr
ENST00000651543.1:c.*195G>A	ENSP00000499215.1:n.*195G>A
ENST00000264932.10:c.1462G>A	ENSP00000264932.6:p.Ala488Thr
ENST00000504309.5:c.1462G>A	ENSP00000426514.1:p.Ala488Thr
ENST00000505555.5:n.1502G>A
ENST00000510361.5:c.1318G>A	ENSP00000427703.1:p.Ala440Thr
ENST00000511810.5:n.2209G>A
ENST00000514027.5:n.1417G>A
ENST00000515752.5:n.1048G>A
ENST00000515815.5:c.117G>A
ENST00000617470.4:c.1027G>A	ENSP00000484230.1:p.Ala343Thr
NM_001294332.1:c.1318G>A	NP_001281261.1:p.Ala440Thr
NM_004168.3:c.1462G>A	NP_004159.2:p.Ala488Thr
XM_005248331.2:c.1462G>A	XP_005248388.1:p.Ala488Thr
XM_011514072.1:c.1462G>A	XP_011512374.1:p.Ala488Thr
XM_011514073.1:c.1462G>A	XP_011512375.1:p.Ala488Thr
XR_925638.1:n.1595G>A
NM_001330758.1:c.1462G>A	NP_001317687.1:p.Ala488Thr
XM_011514072.2:c.1462G>A	XP_011512374.1:p.Ala488Thr
XM_011514073.2:c.1462G>A	XP_011512375.1:p.Ala488Thr
XM_017009685.2:c.1462G>A	XP_016865174.1:p.Ala488Thr
XM_024446143.1:c.1318G>A	XP_024301911.1:p.Ala440Thr
XR_002956167.1:n.1509G>A
NM_004168.4:c.1462G>A MANE Select	NP_004159.2:p.Ala488Thr
NM_001294332.2:c.1318G>A	NP_001281261.1:p.Ala440Thr
NM_001330758.2:c.1462G>A	NP_001317687.1:p.Ala488Thr