Canonical Allele Identifier: CA3173042

Gene: SDHA

Linked Data

• ClinVar Variation Id: 412364
• ClinVar RCV Id: RCV000462816 ; RCV000565889 ; RCV000765829 ; RCV001821296 ; RCV002272249 ; RCV003476127
• dbSNP Id: rs377509915
• ExAC: 5:233651 A / C
• gnomAD v2: 5-233651-A-C
• gnomAD v3: 5-233536-A-C
• gnomAD v4: 5-233536-A-C
• MyVariant Identifiers: chr5:g.233651A>C (hg19) ; chr5:g.233536A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.233536A>C , CM000667.2:g.233536A>C	GRCh38
NC_000005.9:g.233651A>C , CM000667.1:g.233651A>C	GRCh37
NC_000005.8:g.286651A>C	NCBI36
NG_012339.1:g.20296A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.955A>C MANE Select	ENSP00000264932.6:p.Ile319Leu
ENST00000651543.1:c.955A>C	ENSP00000499215.1:p.Ile319Leu
ENST00000264932.10:c.955A>C	ENSP00000264932.6:p.Ile319Leu
ENST00000504309.5:c.955A>C	ENSP00000426514.1:p.Ile319Leu
ENST00000504824.5:n.940A>C
ENST00000505555.5:n.995A>C
ENST00000510361.5:c.811A>C	ENSP00000427703.1:p.Ile271Leu
ENST00000512962.5:n.118A>C
ENST00000514027.5:n.910A>C
ENST00000514233.1:n.465A>C
ENST00000515752.5:n.118A>C
ENST00000617470.4:c.520A>C	ENSP00000484230.1:p.Ile174Leu
NM_001294332.1:c.811A>C	NP_001281261.1:p.Ile271Leu
NM_004168.3:c.955A>C	NP_004159.2:p.Ile319Leu
XM_005248331.2:c.955A>C	XP_005248388.1:p.Ile319Leu
XM_011514072.1:c.955A>C	XP_011512374.1:p.Ile319Leu
XM_011514073.1:c.955A>C	XP_011512375.1:p.Ile319Leu
XR_925638.1:n.1088A>C
NM_001330758.1:c.955A>C	NP_001317687.1:p.Ile319Leu
XM_011514072.2:c.955A>C	XP_011512374.1:p.Ile319Leu
XM_011514073.2:c.955A>C	XP_011512375.1:p.Ile319Leu
XM_017009685.2:c.955A>C	XP_016865174.1:p.Ile319Leu
XM_024446143.1:c.811A>C	XP_024301911.1:p.Ile271Leu
XR_002956167.1:n.1002A>C
NM_004168.4:c.955A>C MANE Select	NP_004159.2:p.Ile319Leu
NM_001294332.2:c.811A>C	NP_001281261.1:p.Ile271Leu
NM_001330758.2:c.955A>C	NP_001317687.1:p.Ile319Leu