Canonical Allele Identifier: CA10620256

Gene: SDHA

Linked Data

• ClinVar Variation Id: 353204
• ClinVar RCV Id: RCV000260734 ; RCV000316002 ; RCV000355512 ; RCV002446606
• dbSNP Id: rs886060515
• gnomAD v4: 5-235171-C-T
• MyVariant Identifiers: chr5:g.235286C>T (hg19) ; chr5:g.235171C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.235171C>T , CM000667.2:g.235171C>T	GRCh38
NC_000005.9:g.235286C>T , CM000667.1:g.235286C>T	GRCh37
NC_000005.8:g.288286C>T	NCBI36
NG_012339.1:g.21931C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1092C>T MANE Select	ENSP00000264932.6:p.Val364=
ENST00000651543.1:c.1065-1257C>T	ENSP00000499215.1:n.1065-1257C>T
ENST00000264932.10:c.1092C>T	ENSP00000264932.6:p.Val364=
ENST00000504309.5:c.1092C>T	ENSP00000426514.1:p.Val364=
ENST00000504824.5:n.1077C>T
ENST00000505555.5:n.1132C>T
ENST00000510361.5:c.948C>T	ENSP00000427703.1:p.Val316=
ENST00000511810.5:n.751C>T
ENST00000512962.5:n.720+1033C>T
ENST00000514027.5:n.1047C>T
ENST00000515752.5:n.720+1033C>T
ENST00000617470.4:c.657C>T	ENSP00000484230.1:p.Val219=
NM_001294332.1:c.948C>T	NP_001281261.1:p.Val316=
NM_004168.3:c.1092C>T	NP_004159.2:p.Val364=
XM_005248331.2:c.1092C>T	XP_005248388.1:p.Val364=
XM_011514072.1:c.1092C>T	XP_011512374.1:p.Val364=
XM_011514073.1:c.1092C>T	XP_011512375.1:p.Val364=
XR_925638.1:n.1225C>T
NM_001330758.1:c.1092C>T	NP_001317687.1:p.Val364=
XM_011514072.2:c.1092C>T	XP_011512374.1:p.Val364=
XM_011514073.2:c.1092C>T	XP_011512375.1:p.Val364=
XM_017009685.2:c.1092C>T	XP_016865174.1:p.Val364=
XM_024446143.1:c.948C>T	XP_024301911.1:p.Val316=
XR_002956167.1:n.1139C>T
NM_004168.4:c.1092C>T MANE Select	NP_004159.2:p.Val364=
NM_001294332.2:c.948C>T	NP_001281261.1:p.Val316=
NM_001330758.2:c.1092C>T	NP_001317687.1:p.Val364=