Canonical Allele Identifier: CA359013953

Gene: SDHA

Linked Data

• ClinVar Variation Id: 472322
• ClinVar RCV Id: RCV000559654 ; RCV003237919 ; RCV003476307 ; RCV001011108
• dbSNP Id: rs1296066077
• gnomAD v2: 5-236616-C-T
• gnomAD v3: 5-236501-C-T
• gnomAD v4: 5-236501-C-T
• MyVariant Identifiers: chr5:g.236616C>T (hg19) ; chr5:g.236501C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.236501C>T , CM000667.2:g.236501C>T	GRCh38
NC_000005.9:g.236616C>T , CM000667.1:g.236616C>T	GRCh37
NC_000005.8:g.289616C>T	NCBI36
NG_012339.1:g.23261C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1334C>T MANE Select	ENSP00000264932.6:p.Ser445Leu
ENST00000651543.1:c.*67C>T	ENSP00000499215.1:n.*67C>T
ENST00000264932.10:c.1334C>T	ENSP00000264932.6:p.Ser445Leu
ENST00000504309.5:c.1334C>T	ENSP00000426514.1:p.Ser445Leu
ENST00000505555.5:n.1374C>T
ENST00000510361.5:c.1190C>T	ENSP00000427703.1:p.Ser397Leu
ENST00000511810.5:n.2081C>T
ENST00000512962.5:n.920C>T
ENST00000514027.5:n.1289C>T
ENST00000515752.5:n.920C>T
ENST00000617470.4:c.899C>T	ENSP00000484230.1:p.Ser300Leu
NM_001294332.1:c.1190C>T	NP_001281261.1:p.Ser397Leu
NM_004168.3:c.1334C>T	NP_004159.2:p.Ser445Leu
XM_005248331.2:c.1334C>T	XP_005248388.1:p.Ser445Leu
XM_011514072.1:c.1334C>T	XP_011512374.1:p.Ser445Leu
XM_011514073.1:c.1334C>T	XP_011512375.1:p.Ser445Leu
XR_925638.1:n.1467C>T
NM_001330758.1:c.1334C>T	NP_001317687.1:p.Ser445Leu
XM_011514072.2:c.1334C>T	XP_011512374.1:p.Ser445Leu
XM_011514073.2:c.1334C>T	XP_011512375.1:p.Ser445Leu
XM_017009685.2:c.1334C>T	XP_016865174.1:p.Ser445Leu
XM_024446143.1:c.1190C>T	XP_024301911.1:p.Ser397Leu
XR_002956167.1:n.1381C>T
NM_004168.4:c.1334C>T MANE Select	NP_004159.2:p.Ser445Leu
NM_001294332.2:c.1190C>T	NP_001281261.1:p.Ser397Leu
NM_001330758.2:c.1334C>T	NP_001317687.1:p.Ser445Leu