Canonical Allele Identifier: CA3173268

Gene: SDHA

Linked Data

• ClinVar Variation Id: 239650
• ClinVar RCV Id: RCV000225792 ; RCV000484270 ; RCV000571145 ; RCV003417817 ; RCV003475070
• dbSNP Id: rs375194444
• ExAC: 5:240572 T / C
• gnomAD v2: 5-240572-T-C
• gnomAD v3: 5-240457-T-C
• gnomAD v4: 5-240457-T-C
• MyVariant Identifiers: chr5:g.240572T>C (hg19) ; chr5:g.240457T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.240457T>C , CM000667.2:g.240457T>C	GRCh38
NC_000005.9:g.240572T>C , CM000667.1:g.240572T>C	GRCh37
NC_000005.8:g.293572T>C	NCBI36
NG_012339.1:g.27217T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.11:c.1532T>C MANE Select	ENSP00000264932.6:p.Leu511Pro
ENST00000651543.1:c.*265T>C	ENSP00000499215.1:n.*265T>C
ENST00000264932.10:c.1532T>C	ENSP00000264932.6:p.Leu511Pro
ENST00000504309.5:c.1532T>C	ENSP00000426514.1:p.Leu511Pro
ENST00000505555.5:n.1572T>C
ENST00000509082.1:n.14T>C
ENST00000510361.5:c.1388T>C	ENSP00000427703.1:p.Leu463Pro
ENST00000511810.5:n.2279T>C
ENST00000514027.5:n.1487T>C
ENST00000515752.5:n.1118T>C
ENST00000515815.5:c.187T>C
ENST00000617470.4:c.1097T>C	ENSP00000484230.1:p.Leu366Pro
NM_001294332.1:c.1388T>C	NP_001281261.1:p.Leu463Pro
NM_004168.3:c.1532T>C	NP_004159.2:p.Leu511Pro
XM_005248331.2:c.1532T>C	XP_005248388.1:p.Leu511Pro
XM_011514072.1:c.1532T>C	XP_011512374.1:p.Leu511Pro
XM_011514073.1:c.1532T>C	XP_011512375.1:p.Leu511Pro
XR_925638.1:n.1665T>C
NM_001330758.1:c.1532T>C	NP_001317687.1:p.Leu511Pro
XM_011514072.2:c.1532T>C	XP_011512374.1:p.Leu511Pro
XM_011514073.2:c.1532T>C	XP_011512375.1:p.Leu511Pro
XM_017009685.2:c.1532T>C	XP_016865174.1:p.Leu511Pro
XM_024446143.1:c.1388T>C	XP_024301911.1:p.Leu463Pro
XR_002956167.1:n.1579T>C
NM_004168.4:c.1532T>C MANE Select	NP_004159.2:p.Leu511Pro
NM_001294332.2:c.1388T>C	NP_001281261.1:p.Leu463Pro
NM_001330758.2:c.1532T>C	NP_001317687.1:p.Leu511Pro