Canonical Allele Identifier: CA16618198
Gene: SDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 418987
ClinVar RCV Id: RCV000483714 RCV000575106 RCV000800769 RCV003401517 RCV003476157
dbSNP Id: rs1064793567
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.240451_240452delinsGA , CM000667.2:g.240451_240452delinsGA GRCh38
NC_000005.9:g.240566_240567delinsGA , CM000667.1:g.240566_240567delinsGA GRCh37
NC_000005.8:g.293566_293567delinsGA NCBI36
NG_012339.1:g.27211_27212delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000264932.11:c.1526_1527delinsGA MANE Select ENSP00000264932.6:p.Ser509Ter
ENST00000651543.1:c.*259_*260delinsGA ENSP00000499215.1:n.*259_*260delinsGA
ENST00000264932.10:c.1526_1527delinsGA ENSP00000264932.6:p.Ser509Ter
ENST00000504309.5:c.1526_1527delinsGA ENSP00000426514.1:p.Ser509Ter
ENST00000505555.5:n.1566_1567delinsGA
ENST00000509082.1:n.8_9delinsGA
ENST00000510361.5:c.1382_1383delinsGA ENSP00000427703.1:p.Ser461Ter
ENST00000511810.5:n.2273_2274delinsGA
ENST00000514027.5:n.1481_1482delinsGA
ENST00000515752.5:n.1112_1113delinsGA
ENST00000515815.5:c.181_182delinsGA
ENST00000617470.4:c.1091_1092delinsGA ENSP00000484230.1:p.Ser364Ter
NM_001294332.1:c.1382_1383delinsGA NP_001281261.1:p.Ser461Ter
NM_004168.3:c.1526_1527delinsGA NP_004159.2:p.Ser509Ter
XM_005248331.2:c.1526_1527delinsGA XP_005248388.1:p.Ser509Ter
XM_011514072.1:c.1526_1527delinsGA XP_011512374.1:p.Ser509Ter
XM_011514073.1:c.1526_1527delinsGA XP_011512375.1:p.Ser509Ter
XR_925638.1:n.1659_1660delinsGA
NM_001330758.1:c.1526_1527delinsGA NP_001317687.1:p.Ser509Ter
XM_011514072.2:c.1526_1527delinsGA XP_011512374.1:p.Ser509Ter
XM_011514073.2:c.1526_1527delinsGA XP_011512375.1:p.Ser509Ter
XM_017009685.2:c.1526_1527delinsGA XP_016865174.1:p.Ser509Ter
XM_024446143.1:c.1382_1383delinsGA XP_024301911.1:p.Ser461Ter
XR_002956167.1:n.1573_1574delinsGA
NM_004168.4:c.1526_1527delinsGA MANE Select NP_004159.2:p.Ser509Ter
NM_001294332.2:c.1382_1383delinsGA NP_001281261.1:p.Ser461Ter
NM_001330758.2:c.1526_1527delinsGA NP_001317687.1:p.Ser509Ter
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