Canonical Allele Identifier: CA3172999

Gene: SDHA

Linked Data

• ClinVar Variation Id: 412341
• ClinVar RCV Id: RCV000463083 ; RCV000765827
• dbSNP Id: rs765611464
• ExAC: 5:231032 C / G
• gnomAD v3: 5-230917-C-G
• gnomAD v4: 5-230917-C-G
• MyVariant Identifiers: chr5:g.231032C>G (hg19) ; chr5:g.230917C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.230917C>G , CM000667.2:g.230917C>G	GRCh38
NC_000005.9:g.231032C>G , CM000667.1:g.231032C>G	GRCh37
NC_000005.8:g.284032C>G	NCBI36
NG_012339.1:g.17677C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.11:c.812C>G MANE Select	ENSP00000264932.6:p.Thr271Ser
ENST00000651543.1:c.812C>G	ENSP00000499215.1:p.Thr271Ser
ENST00000264932.10:c.812C>G	ENSP00000264932.6:p.Thr271Ser
ENST00000504309.5:c.812C>G	ENSP00000426514.1:p.Thr271Ser
ENST00000504824.5:n.797C>G
ENST00000505555.5:n.852C>G
ENST00000510361.5:c.668C>G	ENSP00000427703.1:p.Thr223Ser
ENST00000514027.5:n.767C>G
ENST00000514233.1:n.322C>G
ENST00000617470.4:c.381-4C>G	ENSP00000484230.1:n.381-4C>G
NM_001294332.1:c.668C>G	NP_001281261.1:p.Thr223Ser
NM_004168.3:c.812C>G	NP_004159.2:p.Thr271Ser
XM_005248331.2:c.812C>G	XP_005248388.1:p.Thr271Ser
XM_011514072.1:c.812C>G	XP_011512374.1:p.Thr271Ser
XM_011514073.1:c.812C>G	XP_011512375.1:p.Thr271Ser
XR_925638.1:n.945C>G
NM_001330758.1:c.812C>G	NP_001317687.1:p.Thr271Ser
XM_011514072.2:c.812C>G	XP_011512374.1:p.Thr271Ser
XM_011514073.2:c.812C>G	XP_011512375.1:p.Thr271Ser
XM_017009685.2:c.812C>G	XP_016865174.1:p.Thr271Ser
XM_024446143.1:c.668C>G	XP_024301911.1:p.Thr223Ser
XR_002956167.1:n.859C>G
NM_004168.4:c.812C>G MANE Select	NP_004159.2:p.Thr271Ser
NM_001294332.2:c.668C>G	NP_001281261.1:p.Thr223Ser
NM_001330758.2:c.812C>G	NP_001317687.1:p.Thr271Ser