Canonical Allele Identifier: CA3172677

Gene: SDHA

Linked Data

• ClinVar Variation Id: 412386
• ClinVar RCV Id: RCV000473246 ; RCV000569083 ; RCV001153199 ; RCV001153200 ; RCV001153198 ; RCV003225073
• dbSNP Id: rs780064103
• ExAC: 5:218475 C / T
• gnomAD v2: 5-218475-C-T
• gnomAD v3: 5-218360-C-T
• gnomAD v4: 5-218360-C-T
• MyVariant Identifiers: chr5:g.218475C>T (hg19) ; chr5:g.218360C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.218360C>T , CM000667.2:g.218360C>T	GRCh38
NC_000005.9:g.218475C>T , CM000667.1:g.218475C>T	GRCh37
NC_000005.8:g.271475C>T	NCBI36
NG_012339.1:g.5120C>T
NG_033064.1:g.4823G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.5C>T MANE Select	ENSP00000264932.6:p.Ser2Leu
ENST00000651543.1:c.5C>T	ENSP00000499215.1:p.Ser2Leu
ENST00000264932.10:c.5C>T	ENSP00000264932.6:p.Ser2Leu
ENST00000502379.5:n.50C>T
ENST00000504309.5:c.5C>T	ENSP00000426514.1:p.Ser2Leu
ENST00000505555.5:n.45C>T
ENST00000509632.5:c.5C>T	ENSP00000425077.1:p.Ser2Leu
ENST00000510361.5:c.5C>T	ENSP00000427703.1:p.Ser2Leu
ENST00000617470.4:c.5C>T	ENSP00000484230.1:p.Ser2Leu
NM_001294332.1:c.5C>T	NP_001281261.1:p.Ser2Leu
NM_004168.3:c.5C>T	NP_004159.2:p.Ser2Leu
XM_005248331.2:c.5C>T	XP_005248388.1:p.Ser2Leu
XM_011514072.1:c.5C>T	XP_011512374.1:p.Ser2Leu
XM_011514073.1:c.5C>T	XP_011512375.1:p.Ser2Leu
XR_925638.1:n.138C>T
NM_001330758.1:c.5C>T	NP_001317687.1:p.Ser2Leu
XM_011514072.2:c.5C>T	XP_011512374.1:p.Ser2Leu
XM_011514073.2:c.5C>T	XP_011512375.1:p.Ser2Leu
XM_017009685.2:c.5C>T	XP_016865174.1:p.Ser2Leu
XM_024446143.1:c.5C>T	XP_024301911.1:p.Ser2Leu
XR_002956167.1:n.52C>T
NM_004168.4:c.5C>T MANE Select	NP_004159.2:p.Ser2Leu
NM_001294332.2:c.5C>T	NP_001281261.1:p.Ser2Leu
NM_001330758.2:c.5C>T	NP_001317687.1:p.Ser2Leu