Canonical Allele Identifier: CA3173200

Gene: SDHA

Linked Data

• ClinVar Variation Id: 417254
• ClinVar RCV Id: RCV000467921 ; RCV000571567
• dbSNP Id: rs551497992
• ExAC: 5:236626 T / C
• gnomAD v2: 5-236626-T-C
• gnomAD v3: 5-236511-T-C
• gnomAD v4: 5-236511-T-C
• MyVariant Identifiers: chr5:g.236626T>C (hg19) ; chr5:g.236511T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.236511T>C , CM000667.2:g.236511T>C	GRCh38
NC_000005.9:g.236626T>C , CM000667.1:g.236626T>C	GRCh37
NC_000005.8:g.289626T>C	NCBI36
NG_012339.1:g.23271T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1344T>C MANE Select	ENSP00000264932.6:p.Gly448=
ENST00000651543.1:c.*77T>C	ENSP00000499215.1:n.*77T>C
ENST00000264932.10:c.1344T>C	ENSP00000264932.6:p.Gly448=
ENST00000504309.5:c.1344T>C	ENSP00000426514.1:p.Gly448=
ENST00000505555.5:n.1384T>C
ENST00000510361.5:c.1200T>C	ENSP00000427703.1:p.Gly400=
ENST00000511810.5:n.2091T>C
ENST00000512962.5:n.930T>C
ENST00000514027.5:n.1299T>C
ENST00000515752.5:n.930T>C
ENST00000617470.4:c.909T>C	ENSP00000484230.1:p.Gly303=
NM_001294332.1:c.1200T>C	NP_001281261.1:p.Gly400=
NM_004168.3:c.1344T>C	NP_004159.2:p.Gly448=
XM_005248331.2:c.1344T>C	XP_005248388.1:p.Gly448=
XM_011514072.1:c.1344T>C	XP_011512374.1:p.Gly448=
XM_011514073.1:c.1344T>C	XP_011512375.1:p.Gly448=
XR_925638.1:n.1477T>C
NM_001330758.1:c.1344T>C	NP_001317687.1:p.Gly448=
XM_011514072.2:c.1344T>C	XP_011512374.1:p.Gly448=
XM_011514073.2:c.1344T>C	XP_011512375.1:p.Gly448=
XM_017009685.2:c.1344T>C	XP_016865174.1:p.Gly448=
XM_024446143.1:c.1200T>C	XP_024301911.1:p.Gly400=
XR_002956167.1:n.1391T>C
NM_004168.4:c.1344T>C MANE Select	NP_004159.2:p.Gly448=
NM_001294332.2:c.1200T>C	NP_001281261.1:p.Gly400=
NM_001330758.2:c.1344T>C	NP_001317687.1:p.Gly448=