Canonical Allele Identifier: CA16618197

Gene: SDHA

Linked Data

• ClinVar Variation Id: 423532
• ClinVar RCV Id: RCV000479013 ; RCV000569661 ; RCV000793091
• dbSNP Id: rs1064796477
• gnomAD v4: 5-236521-C-T
• MyVariant Identifiers: chr5:g.236636C>T (hg19) ; chr5:g.236521C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.236521C>T , CM000667.2:g.236521C>T	GRCh38
NC_000005.9:g.236636C>T , CM000667.1:g.236636C>T	GRCh37
NC_000005.8:g.289636C>T	NCBI36
NG_012339.1:g.23281C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1354C>T MANE Select	ENSP00000264932.6:p.Leu452Phe
ENST00000651543.1:c.*87C>T	ENSP00000499215.1:n.*87C>T
ENST00000264932.10:c.1354C>T	ENSP00000264932.6:p.Leu452Phe
ENST00000504309.5:c.1354C>T	ENSP00000426514.1:p.Leu452Phe
ENST00000505555.5:n.1394C>T
ENST00000510361.5:c.1210C>T	ENSP00000427703.1:p.Leu404Phe
ENST00000511810.5:n.2101C>T
ENST00000514027.5:n.1309C>T
ENST00000515752.5:n.940C>T
ENST00000515815.5:c.9C>T
ENST00000617470.4:c.919C>T	ENSP00000484230.1:p.Leu307Phe
NM_001294332.1:c.1210C>T	NP_001281261.1:p.Leu404Phe
NM_004168.3:c.1354C>T	NP_004159.2:p.Leu452Phe
XM_005248331.2:c.1354C>T	XP_005248388.1:p.Leu452Phe
XM_011514072.1:c.1354C>T	XP_011512374.1:p.Leu452Phe
XM_011514073.1:c.1354C>T	XP_011512375.1:p.Leu452Phe
XR_925638.1:n.1487C>T
NM_001330758.1:c.1354C>T	NP_001317687.1:p.Leu452Phe
XM_011514072.2:c.1354C>T	XP_011512374.1:p.Leu452Phe
XM_011514073.2:c.1354C>T	XP_011512375.1:p.Leu452Phe
XM_017009685.2:c.1354C>T	XP_016865174.1:p.Leu452Phe
XM_024446143.1:c.1210C>T	XP_024301911.1:p.Leu404Phe
XR_002956167.1:n.1401C>T
NM_004168.4:c.1354C>T MANE Select	NP_004159.2:p.Leu452Phe
NM_001294332.2:c.1210C>T	NP_001281261.1:p.Leu404Phe
NM_001330758.2:c.1354C>T	NP_001317687.1:p.Leu452Phe