Canonical Allele Identifier: CA359013848
Gene: SDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 1768956
ClinVar RCV Id: RCV002383173
dbSNP Id: rs988419580
gnomAD v4: 5-236452-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.236452G>C , CM000667.2:g.236452G>C GRCh38
NC_000005.9:g.236567G>C , CM000667.1:g.236567G>C GRCh37
NC_000005.8:g.289567G>C NCBI36
NG_012339.1:g.23212G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264932.11:c.1285G>C MANE Select ENSP00000264932.6:p.Asp429His
ENST00000651543.1:c.*18G>C ENSP00000499215.1:n.*18G>C
ENST00000264932.10:c.1285G>C ENSP00000264932.6:p.Asp429His
ENST00000504309.5:c.1285G>C ENSP00000426514.1:p.Asp429His
ENST00000505555.5:n.1325G>C
ENST00000510361.5:c.1141G>C ENSP00000427703.1:p.Asp381His
ENST00000511810.5:n.2032G>C
ENST00000512962.5:n.871G>C
ENST00000514027.5:n.1240G>C
ENST00000515752.5:n.871G>C
ENST00000617470.4:c.850G>C ENSP00000484230.1:p.Asp284His
NM_001294332.1:c.1141G>C NP_001281261.1:p.Asp381His
NM_004168.3:c.1285G>C NP_004159.2:p.Asp429His
XM_005248331.2:c.1285G>C XP_005248388.1:p.Asp429His
XM_011514072.1:c.1285G>C XP_011512374.1:p.Asp429His
XM_011514073.1:c.1285G>C XP_011512375.1:p.Asp429His
XR_925638.1:n.1418G>C
NM_001330758.1:c.1285G>C NP_001317687.1:p.Asp429His
XM_011514072.2:c.1285G>C XP_011512374.1:p.Asp429His
XM_011514073.2:c.1285G>C XP_011512375.1:p.Asp429His
XM_017009685.2:c.1285G>C XP_016865174.1:p.Asp429His
XM_024446143.1:c.1141G>C XP_024301911.1:p.Asp381His
XR_002956167.1:n.1332G>C
NM_004168.4:c.1285G>C MANE Select NP_004159.2:p.Asp429His
NM_001294332.2:c.1141G>C NP_001281261.1:p.Asp381His
NM_001330758.2:c.1285G>C NP_001317687.1:p.Asp429His