Canonical Allele Identifier: CA359014182

Gene: SDHA

Linked Data

• ClinVar Variation Id: 819237
• ClinVar RCV Id: RCV001011619 ; RCV001860674
• dbSNP Id: rs759661610
• gnomAD v4: 5-240370-C-T
• MyVariant Identifiers: chr5:g.240485C>T (hg19) ; chr5:g.240370C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.240370C>T , CM000667.2:g.240370C>T	GRCh38
NC_000005.9:g.240485C>T , CM000667.1:g.240485C>T	GRCh37
NC_000005.8:g.293485C>T	NCBI36
NG_012339.1:g.27130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1445C>T MANE Select	ENSP00000264932.6:p.Pro482Leu
ENST00000651543.1:c.*178C>T	ENSP00000499215.1:n.*178C>T
ENST00000264932.10:c.1445C>T	ENSP00000264932.6:p.Pro482Leu
ENST00000504309.5:c.1445C>T	ENSP00000426514.1:p.Pro482Leu
ENST00000505555.5:n.1485C>T
ENST00000510361.5:c.1301C>T	ENSP00000427703.1:p.Pro434Leu
ENST00000511810.5:n.2192C>T
ENST00000514027.5:n.1400C>T
ENST00000515752.5:n.1031C>T
ENST00000515815.5:c.100C>T
ENST00000617470.4:c.1010C>T	ENSP00000484230.1:p.Pro337Leu
NM_001294332.1:c.1301C>T	NP_001281261.1:p.Pro434Leu
NM_004168.3:c.1445C>T	NP_004159.2:p.Pro482Leu
XM_005248331.2:c.1445C>T	XP_005248388.1:p.Pro482Leu
XM_011514072.1:c.1445C>T	XP_011512374.1:p.Pro482Leu
XM_011514073.1:c.1445C>T	XP_011512375.1:p.Pro482Leu
XR_925638.1:n.1578C>T
NM_001330758.1:c.1445C>T	NP_001317687.1:p.Pro482Leu
XM_011514072.2:c.1445C>T	XP_011512374.1:p.Pro482Leu
XM_011514073.2:c.1445C>T	XP_011512375.1:p.Pro482Leu
XM_017009685.2:c.1445C>T	XP_016865174.1:p.Pro482Leu
XM_024446143.1:c.1301C>T	XP_024301911.1:p.Pro434Leu
XR_002956167.1:n.1492C>T
NM_004168.4:c.1445C>T MANE Select	NP_004159.2:p.Pro482Leu
NM_001294332.2:c.1301C>T	NP_001281261.1:p.Pro434Leu
NM_001330758.2:c.1445C>T	NP_001317687.1:p.Pro482Leu