Canonical Allele Identifier: CA165326
Gene: SDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 141401
ClinVar RCV Id: RCV000129906 RCV000409578 RCV000649428
dbSNP Id: rs587781720
ExAC: 5:231038 C / T
gnomAD v2: 5-231038-C-T
gnomAD v3: 5-230923-C-T
gnomAD v4: 5-230923-C-T
MyVariant Identifiers: chr5:g.231038C>T (hg19) chr5:g.230923C>T (hg38)
PubMed: PMID:23109135 PMID:23282968 PMID:23730622
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.230923C>T , CM000667.2:g.230923C>T GRCh38
NC_000005.9:g.231038C>T , CM000667.1:g.231038C>T GRCh37
NC_000005.8:g.284038C>T NCBI36
NG_012339.1:g.17683C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264932.11:c.818C>T MANE Select ENSP00000264932.6:p.Thr273Ile
ENST00000651543.1:c.818C>T ENSP00000499215.1:p.Thr273Ile
ENST00000264932.10:c.818C>T ENSP00000264932.6:p.Thr273Ile
ENST00000504309.5:c.818C>T ENSP00000426514.1:p.Thr273Ile
ENST00000504824.5:n.803C>T
ENST00000505555.5:n.858C>T
ENST00000510361.5:c.674C>T ENSP00000427703.1:p.Thr225Ile
ENST00000514027.5:n.773C>T
ENST00000514233.1:n.328C>T
ENST00000617470.4:c.383C>T ENSP00000484230.1:p.Thr128Ile
NM_001294332.1:c.674C>T NP_001281261.1:p.Thr225Ile
NM_004168.3:c.818C>T NP_004159.2:p.Thr273Ile
XM_005248331.2:c.818C>T XP_005248388.1:p.Thr273Ile
XM_011514072.1:c.818C>T XP_011512374.1:p.Thr273Ile
XM_011514073.1:c.818C>T XP_011512375.1:p.Thr273Ile
XR_925638.1:n.951C>T
NM_001330758.1:c.818C>T NP_001317687.1:p.Thr273Ile
XM_011514072.2:c.818C>T XP_011512374.1:p.Thr273Ile
XM_011514073.2:c.818C>T XP_011512375.1:p.Thr273Ile
XM_017009685.2:c.818C>T XP_016865174.1:p.Thr273Ile
XM_024446143.1:c.674C>T XP_024301911.1:p.Thr225Ile
XR_002956167.1:n.865C>T
NM_004168.4:c.818C>T MANE Select NP_004159.2:p.Thr273Ile
NM_001294332.2:c.674C>T NP_001281261.1:p.Thr225Ile
NM_001330758.2:c.818C>T NP_001317687.1:p.Thr273Ile
Search 100 bp 5'
Search 100 bp 3'