Canonical Allele Identifier: CA3172890

Gene: SDHA

Linked Data

• ClinVar Variation Id: 412349
• ClinVar RCV Id: RCV000458356 ; RCV000575357
• dbSNP Id: rs373340696
• ExAC: 5:226148 A / G
• gnomAD v2: 5-226148-A-G
• gnomAD v3: 5-226033-A-G
• gnomAD v4: 5-226033-A-G
• MyVariant Identifiers: chr5:g.226148A>G (hg19) ; chr5:g.226033A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.226033A>G , CM000667.2:g.226033A>G	GRCh38
NC_000005.9:g.226148A>G , CM000667.1:g.226148A>G	GRCh37
NC_000005.8:g.279148A>G	NCBI36
NG_012339.1:g.12793A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.11:c.607A>G MANE Select	ENSP00000264932.6:p.Thr203Ala
ENST00000651543.1:c.607A>G	ENSP00000499215.1:p.Thr203Ala
ENST00000264932.10:c.607A>G	ENSP00000264932.6:p.Thr203Ala
ENST00000504309.5:c.607A>G	ENSP00000426514.1:p.Thr203Ala
ENST00000504824.5:n.592A>G
ENST00000505555.5:n.647A>G
ENST00000509420.5:n.401A>G
ENST00000510361.5:c.463A>G	ENSP00000427703.1:p.Thr155Ala
ENST00000617470.4:c.380+547A>G	ENSP00000484230.1:n.380+547A>G
NM_001294332.1:c.463A>G	NP_001281261.1:p.Thr155Ala
NM_004168.3:c.607A>G	NP_004159.2:p.Thr203Ala
XM_005248331.2:c.607A>G	XP_005248388.1:p.Thr203Ala
XM_011514072.1:c.607A>G	XP_011512374.1:p.Thr203Ala
XM_011514073.1:c.607A>G	XP_011512375.1:p.Thr203Ala
XR_925638.1:n.740A>G
NM_001330758.1:c.607A>G	NP_001317687.1:p.Thr203Ala
XM_011514072.2:c.607A>G	XP_011512374.1:p.Thr203Ala
XM_011514073.2:c.607A>G	XP_011512375.1:p.Thr203Ala
XM_017009685.2:c.607A>G	XP_016865174.1:p.Thr203Ala
XM_024446143.1:c.463A>G	XP_024301911.1:p.Thr155Ala
XR_002956167.1:n.654A>G
NM_004168.4:c.607A>G MANE Select	NP_004159.2:p.Thr203Ala
NM_001294332.2:c.463A>G	NP_001281261.1:p.Thr155Ala
NM_001330758.2:c.607A>G	NP_001317687.1:p.Thr203Ala