Canonical Allele Identifier: CA348232

Gene: SDHA

Linked Data

• ClinVar Variation Id: 221076
• ClinVar RCV Id: RCV000410184 ; RCV000562815 ; RCV000203953 ; RCV001197548 ; RCV001582713 ; RCV002478742
• dbSNP Id: rs144513891
• ExAC: 5:228382 T / C
• gnomAD v2: 5-228382-T-C
• gnomAD v3: 5-228267-T-C
• gnomAD v4: 5-228267-T-C
• MyVariant Identifiers: chr5:g.228382T>C (hg19) ; chr5:g.228267T>C (hg38)
• PubMed: PMID:24448499

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.228267T>C , CM000667.2:g.228267T>C	GRCh38
NC_000005.9:g.228382T>C , CM000667.1:g.228382T>C	GRCh37
NC_000005.8:g.281382T>C	NCBI36
NG_012339.1:g.15027T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.704T>C MANE Select	ENSP00000264932.6:p.Ile235Thr
ENST00000651543.1:c.704T>C	ENSP00000499215.1:p.Ile235Thr
ENST00000264932.10:c.704T>C	ENSP00000264932.6:p.Ile235Thr
ENST00000504309.5:c.704T>C	ENSP00000426514.1:p.Ile235Thr
ENST00000504824.5:n.689T>C
ENST00000505555.5:n.744T>C
ENST00000509420.5:n.498T>C
ENST00000510361.5:c.560T>C	ENSP00000427703.1:p.Ile187Thr
ENST00000514027.5:n.659T>C
ENST00000514233.1:n.214T>C
ENST00000617470.4:c.381-2654T>C	ENSP00000484230.1:n.381-2654T>C
NM_001294332.1:c.560T>C	NP_001281261.1:p.Ile187Thr
NM_004168.3:c.704T>C	NP_004159.2:p.Ile235Thr
XM_005248331.2:c.704T>C	XP_005248388.1:p.Ile235Thr
XM_011514072.1:c.704T>C	XP_011512374.1:p.Ile235Thr
XM_011514073.1:c.704T>C	XP_011512375.1:p.Ile235Thr
XR_925638.1:n.837T>C
NM_001330758.1:c.704T>C	NP_001317687.1:p.Ile235Thr
XM_011514072.2:c.704T>C	XP_011512374.1:p.Ile235Thr
XM_011514073.2:c.704T>C	XP_011512375.1:p.Ile235Thr
XM_017009685.2:c.704T>C	XP_016865174.1:p.Ile235Thr
XM_024446143.1:c.560T>C	XP_024301911.1:p.Ile187Thr
XR_002956167.1:n.751T>C
NM_004168.4:c.704T>C MANE Select	NP_004159.2:p.Ile235Thr
NM_001294332.2:c.560T>C	NP_001281261.1:p.Ile187Thr
NM_001330758.2:c.704T>C	NP_001317687.1:p.Ile235Thr