Canonical Allele Identifier: CA10624444

Gene: SDHA

Linked Data

• ClinVar Variation Id: 353208
• ClinVar RCV Id: RCV000285270 ; RCV000334630 ; RCV000379866
• dbSNP Id: rs193112615
• gnomAD v2: 5-256668-G-C
• gnomAD v3: 5-256553-G-C
• gnomAD v4: 5-256553-G-C
• MyVariant Identifiers: chr5:g.256668G>C (hg19) ; chr5:g.256553G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.256553G>C , CM000667.2:g.256553G>C	GRCh38
NC_000005.9:g.256668G>C , CM000667.1:g.256668G>C	GRCh37
NC_000005.8:g.309668G>C	NCBI36
NG_012339.1:g.43313G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.*133G>C MANE Select	ENSP00000264932.6:n.*133G>C
ENST00000651543.1:c.*763+98G>C	ENSP00000499215.1:n.*763+98G>C
ENST00000264932.10:c.*133G>C	ENSP00000264932.6:n.*133G>C
ENST00000503674.5:n.2300G>C
ENST00000504309.5:c.*133G>C	ENSP00000426514.1:n.*133G>C
ENST00000507522.1:n.518G>C
ENST00000509082.1:n.305G>C
ENST00000509564.1:c.501G>C	ENSP00000421911.1:n.501G>C
ENST00000510361.5:c.*133G>C	ENSP00000427703.1:n.*133G>C
ENST00000511810.5:n.2875G>C
ENST00000514027.5:n.2083G>C
ENST00000515752.5:n.1714G>C
ENST00000515815.5:c.575G>C
ENST00000617470.4:c.*133G>C	ENSP00000484230.1:n.*133G>C
NM_001294332.1:c.*133G>C	NP_001281261.1:n.*133G>C
NM_004168.3:c.*133G>C	NP_004159.2:n.*133G>C
XM_005248331.2:c.*133G>C	XP_005248388.1:n.*133G>C
XM_011514072.1:c.1908+2047G>C	XP_011512374.1:n.1908+2047G>C
XM_011514073.1:c.1665+2047G>C	XP_011512375.1:n.1665+2047G>C
XR_925638.1:n.2041+2047G>C
NM_001330758.1:c.*133G>C	NP_001317687.1:n.*133G>C
XM_011514072.2:c.1908+2047G>C	XP_011512374.1:n.1908+2047G>C
XM_011514073.2:c.1665+2047G>C	XP_011512375.1:n.1665+2047G>C
XM_017009685.2:c.*1597G>C	XP_016865174.1:n.*1597G>C
XM_024446143.1:c.*1597G>C	XP_024301911.1:n.*1597G>C
XR_002956167.1:n.5099G>C
NM_004168.4:c.*133G>C MANE Select	NP_004159.2:n.*133G>C
NM_001294332.2:c.*133G>C	NP_001281261.1:n.*133G>C
NM_001330758.2:c.*133G>C	NP_001317687.1:n.*133G>C