Canonical Allele Identifier: CA3172745
Gene: SDHA HGNC NCBI
COSMIC:
COSM4418245 (not active)
MyVariant.info:
GRCh38 chr5:g.224372T>C
GRCh37 chr5:g.224487T>C
Revel Score:
ENST00000264932 (MANE Select) 0.392
ENST00000327872 0.392
ENST00000504309 0.392
ENST00000510361 0.392
gnomAD v2:
5:224487 T / C
gnomAD v3:
5:224372 T / C
gnomAD v4:
chr5-224372-T-C
Joint Max Group AF 0.02273679 (EAS)
Genomes Max Group AF 0.01745073 (EAS)
Exomes Max Group AF 0.02308312 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.224372T>C , CM000667.2:g.224372T>C GRCh38
NC_000005.9:g.224487T>C , CM000667.1:g.224487T>C GRCh37
NC_000005.8:g.277487T>C NCBI36
NG_012339.1:g.11132T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264932.11:c.163T>C MANE Select ENSP00000264932.6:p.Tyr55His
ENST00000651543.1:c.163T>C ENSP00000499215.1:p.Tyr55His
ENST00000264932.10:c.163T>C ENSP00000264932.6:p.Tyr55His
ENST00000502379.5:n.208T>C
ENST00000504309.5:c.163T>C ENSP00000426514.1:p.Tyr55His
ENST00000504824.5:n.148T>C
ENST00000505555.5:n.203T>C
ENST00000509632.5:c.261T>C ENSP00000425077.1:p.Ser87=
ENST00000510361.5:c.163T>C ENSP00000427703.1:p.Tyr55His
ENST00000617470.4:c.163T>C ENSP00000484230.1:p.Tyr55His
NM_001294332.1:c.163T>C NP_001281261.1:p.Tyr55His
NM_004168.3:c.163T>C NP_004159.2:p.Tyr55His
XM_005248331.2:c.163T>C XP_005248388.1:p.Tyr55His
XM_011514072.1:c.163T>C XP_011512374.1:p.Tyr55His
XM_011514073.1:c.163T>C XP_011512375.1:p.Tyr55His
XR_925638.1:n.296T>C
NM_001330758.1:c.163T>C NP_001317687.1:p.Tyr55His
XM_011514072.2:c.163T>C XP_011512374.1:p.Tyr55His
XM_011514073.2:c.163T>C XP_011512375.1:p.Tyr55His
XM_017009685.2:c.163T>C XP_016865174.1:p.Tyr55His
XM_024446143.1:c.163T>C XP_024301911.1:p.Tyr55His
XR_002956167.1:n.210T>C
NM_004168.4:c.163T>C MANE Select NP_004159.2:p.Tyr55His
NM_001294332.2:c.163T>C NP_001281261.1:p.Tyr55His
NM_001330758.2:c.163T>C NP_001317687.1:p.Tyr55His
Search 100 bp 5'
Search 100 bp 3'