Canonical Allele Identifier: CA359012801

Gene: SDHA

Linked Data

• ClinVar Variation Id: 472424
• ClinVar RCV Id: RCV000549735 ; RCV000564552 ; RCV000765831 ; RCV002263789
• dbSNP Id: rs373509391
• gnomAD v4: 5-233575-C-T
• MyVariant Identifiers: chr5:g.233690C>T (hg19) ; chr5:g.233575C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.233575C>T , CM000667.2:g.233575C>T	GRCh38
NC_000005.9:g.233690C>T , CM000667.1:g.233690C>T	GRCh37
NC_000005.8:g.286690C>T	NCBI36
NG_012339.1:g.20335C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.994C>T MANE Select	ENSP00000264932.6:p.Pro332Ser
ENST00000651543.1:c.994C>T	ENSP00000499215.1:p.Pro332Ser
ENST00000264932.10:c.994C>T	ENSP00000264932.6:p.Pro332Ser
ENST00000504309.5:c.994C>T	ENSP00000426514.1:p.Pro332Ser
ENST00000504824.5:n.979C>T
ENST00000505555.5:n.1034C>T
ENST00000510361.5:c.850C>T	ENSP00000427703.1:p.Pro284Ser
ENST00000512962.5:n.157C>T
ENST00000514027.5:n.949C>T
ENST00000514233.1:n.504C>T
ENST00000515752.5:n.157C>T
ENST00000617470.4:c.559C>T	ENSP00000484230.1:p.Pro187Ser
NM_001294332.1:c.850C>T	NP_001281261.1:p.Pro284Ser
NM_004168.3:c.994C>T	NP_004159.2:p.Pro332Ser
XM_005248331.2:c.994C>T	XP_005248388.1:p.Pro332Ser
XM_011514072.1:c.994C>T	XP_011512374.1:p.Pro332Ser
XM_011514073.1:c.994C>T	XP_011512375.1:p.Pro332Ser
XR_925638.1:n.1127C>T
NM_001330758.1:c.994C>T	NP_001317687.1:p.Pro332Ser
XM_011514072.2:c.994C>T	XP_011512374.1:p.Pro332Ser
XM_011514073.2:c.994C>T	XP_011512375.1:p.Pro332Ser
XM_017009685.2:c.994C>T	XP_016865174.1:p.Pro332Ser
XM_024446143.1:c.850C>T	XP_024301911.1:p.Pro284Ser
XR_002956167.1:n.1041C>T
NM_004168.4:c.994C>T MANE Select	NP_004159.2:p.Pro332Ser
NM_001294332.2:c.850C>T	NP_001281261.1:p.Pro284Ser
NM_001330758.2:c.994C>T	NP_001317687.1:p.Pro332Ser