Canonical Allele Identifier: CA119883
Gene: SDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 8745
ClinVar RCV Id: RCV000009284 RCV000009286
dbSNP Id: rs137852768
ExAC: 5:251453 G / A
gnomAD v2: 5-251453-G-A
gnomAD v4: 5-251338-G-A
MyVariant Identifiers: chr5:g.251453G>A (hg19) chr5:g.251338G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.251338G>A , CM000667.2:g.251338G>A GRCh38
NC_000005.9:g.251453G>A , CM000667.1:g.251453G>A GRCh37
NC_000005.8:g.304453G>A NCBI36
NG_012339.1:g.38098G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264932.11:c.1664G>A MANE Select ENSP00000264932.6:p.Gly555Glu
ENST00000651543.1:c.*397G>A ENSP00000499215.1:n.*397G>A
ENST00000264932.10:c.1664G>A ENSP00000264932.6:p.Gly555Glu
ENST00000503674.5:n.1836G>A
ENST00000504309.5:c.1552-3055G>A ENSP00000426514.1:n.1552-3055G>A
ENST00000505555.5:n.1704G>A
ENST00000507266.1:n.411G>A
ENST00000509082.1:n.85+295G>A
ENST00000509564.1:c.2G>A ENSP00000421911.1:p.Gly1Glu
ENST00000510361.5:c.1520G>A ENSP00000427703.1:p.Gly507Glu
ENST00000511810.5:n.2411G>A
ENST00000514027.5:n.1619G>A
ENST00000515752.5:n.1250G>A
ENST00000515815.5:c.207-3020G>A
ENST00000617470.4:c.1229G>A ENSP00000484230.1:p.Gly410Glu
NM_001294332.1:c.1520G>A NP_001281261.1:p.Gly507Glu
NM_004168.3:c.1664G>A NP_004159.2:p.Gly555Glu
XM_005248331.2:c.1552-3055G>A XP_005248388.1:n.1552-3055G>A
XM_011514072.1:c.1664G>A XP_011512374.1:p.Gly555Glu
XM_011514073.1:c.1552-3055G>A XP_011512375.1:n.1552-3055G>A
XR_925638.1:n.1797G>A
NM_001330758.1:c.1552-3055G>A NP_001317687.1:n.1552-3055G>A
XM_011514072.2:c.1664G>A XP_011512374.1:p.Gly555Glu
XM_011514073.2:c.1552-3055G>A XP_011512375.1:n.1552-3055G>A
XM_017009685.2:c.1664G>A XP_016865174.1:p.Gly555Glu
XM_024446143.1:c.1520G>A XP_024301911.1:p.Gly507Glu
XR_002956167.1:n.1711G>A
NM_004168.4:c.1664G>A MANE Select NP_004159.2:p.Gly555Glu
NM_001294332.2:c.1520G>A NP_001281261.1:p.Gly507Glu
NM_001330758.2:c.1552-3055G>A NP_001317687.1:n.1552-3055G>A
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