Canonical Allele Identifier: CA359014311

Gene: SDHA

Linked Data

• MyVariant Identifiers: chr5:g.240543T>G (hg19) ; chr5:g.240428T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.240428T>G , CM000667.2:g.240428T>G	GRCh38
NC_000005.9:g.240543T>G , CM000667.1:g.240543T>G	GRCh37
NC_000005.8:g.293543T>G	NCBI36
NG_012339.1:g.27188T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1503T>G MANE Select	ENSP00000264932.6:p.Phe501Leu
ENST00000651543.1:c.*236T>G	ENSP00000499215.1:n.*236T>G
ENST00000264932.10:c.1503T>G	ENSP00000264932.6:p.Phe501Leu
ENST00000504309.5:c.1503T>G	ENSP00000426514.1:p.Phe501Leu
ENST00000505555.5:n.1543T>G
ENST00000510361.5:c.1359T>G	ENSP00000427703.1:p.Phe453Leu
ENST00000511810.5:n.2250T>G
ENST00000514027.5:n.1458T>G
ENST00000515752.5:n.1089T>G
ENST00000515815.5:c.158T>G
ENST00000617470.4:c.1068T>G	ENSP00000484230.1:p.Phe356Leu
NM_001294332.1:c.1359T>G	NP_001281261.1:p.Phe453Leu
NM_004168.3:c.1503T>G	NP_004159.2:p.Phe501Leu
XM_005248331.2:c.1503T>G	XP_005248388.1:p.Phe501Leu
XM_011514072.1:c.1503T>G	XP_011512374.1:p.Phe501Leu
XM_011514073.1:c.1503T>G	XP_011512375.1:p.Phe501Leu
XR_925638.1:n.1636T>G
NM_001330758.1:c.1503T>G	NP_001317687.1:p.Phe501Leu
XM_011514072.2:c.1503T>G	XP_011512374.1:p.Phe501Leu
XM_011514073.2:c.1503T>G	XP_011512375.1:p.Phe501Leu
XM_017009685.2:c.1503T>G	XP_016865174.1:p.Phe501Leu
XM_024446143.1:c.1359T>G	XP_024301911.1:p.Phe453Leu
XR_002956167.1:n.1550T>G
NM_004168.4:c.1503T>G MANE Select	NP_004159.2:p.Phe501Leu
NM_001294332.2:c.1359T>G	NP_001281261.1:p.Phe453Leu
NM_001330758.2:c.1503T>G	NP_001317687.1:p.Phe501Leu