Canonical Allele Identifier: CA10582432

Gene: SDHA

Linked Data

• ClinVar Variation Id: 239659
• ClinVar RCV Id: RCV002411041 ; RCV002500782 ; RCV002510828
• dbSNP Id: rs878854630
• gnomAD v2: 5-254511-C-T
• gnomAD v3: 5-254396-C-T
• gnomAD v4: 5-254396-C-T
• MyVariant Identifiers: chr5:g.254511C>T (hg19) ; chr5:g.254396C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.254396C>T , CM000667.2:g.254396C>T	GRCh38
NC_000005.9:g.254511C>T , CM000667.1:g.254511C>T	GRCh37
NC_000005.8:g.307511C>T	NCBI36
NG_012339.1:g.41156C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.11:c.1798C>T MANE Select	ENSP00000264932.6:p.Arg600Trp
ENST00000651543.1:c.*531C>T	ENSP00000499215.1:n.*531C>T
ENST00000264932.10:c.1798C>T	ENSP00000264932.6:p.Arg600Trp
ENST00000503674.5:n.1970C>T
ENST00000504309.5:c.1555C>T	ENSP00000426514.1:p.Arg519Trp
ENST00000507522.1:n.205C>T
ENST00000509082.1:n.86-1938C>T
ENST00000509564.1:c.171C>T	ENSP00000421911.1:p.Cys57=
ENST00000510361.5:c.1654C>T	ENSP00000427703.1:p.Arg552Trp
ENST00000511810.5:n.2545C>T
ENST00000514027.5:n.1753C>T
ENST00000515752.5:n.1384C>T
ENST00000515815.5:c.245C>T
ENST00000617470.4:c.1363C>T	ENSP00000484230.1:p.Arg455Trp
NM_001294332.1:c.1654C>T	NP_001281261.1:p.Arg552Trp
NM_004168.3:c.1798C>T	NP_004159.2:p.Arg600Trp
XM_005248331.2:c.1555C>T	XP_005248388.1:p.Arg519Trp
XM_011514072.1:c.1798C>T	XP_011512374.1:p.Arg600Trp
XM_011514073.1:c.1555C>T	XP_011512375.1:p.Arg519Trp
XR_925638.1:n.1931C>T
NM_001330758.1:c.1555C>T	NP_001317687.1:p.Arg519Trp
XM_011514072.2:c.1798C>T	XP_011512374.1:p.Arg600Trp
XM_011514073.2:c.1555C>T	XP_011512375.1:p.Arg519Trp
XM_017009685.2:c.1798C>T	XP_016865174.1:p.Arg600Trp
XM_024446143.1:c.1654C>T	XP_024301911.1:p.Arg552Trp
XR_002956167.1:n.4769C>T
NM_004168.4:c.1798C>T MANE Select	NP_004159.2:p.Arg600Trp
NM_001294332.2:c.1654C>T	NP_001281261.1:p.Arg552Trp
NM_001330758.2:c.1555C>T	NP_001317687.1:p.Arg519Trp