Canonical Allele Identifier: CA2672971961

Gene: SDHA

Linked Data

• ClinVar Variation Id: 2945283
• ClinVar RCV Id: RCV003800937
• gnomAD v4: 5-236560-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.236563del , CM000667.2:g.236563del	GRCh38
NC_000005.9:g.236678del , CM000667.1:g.236678del	GRCh37
NC_000005.8:g.289678del	NCBI36
NG_012339.1:g.23323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1396del MANE Select	ENSP00000264932.6:p.Ala466HisfsTer4
ENST00000651543.1:c.*129del	ENSP00000499215.1:n.*129del
ENST00000264932.10:c.1396del	ENSP00000264932.6:p.Ala466HisfsTer4
ENST00000504309.5:c.1396del	ENSP00000426514.1:p.Ala466HisfsTer4
ENST00000505555.5:n.1436del
ENST00000510361.5:c.1252del	ENSP00000427703.1:p.Ala418HisfsTer4
ENST00000511810.5:n.2143del
ENST00000514027.5:n.1351del
ENST00000515752.5:n.982del
ENST00000515815.5:c.51del
ENST00000617470.4:c.961del	ENSP00000484230.1:p.Ala321HisfsTer4
NM_001294332.1:c.1252del	NP_001281261.1:p.Ala418HisfsTer4
NM_004168.3:c.1396del	NP_004159.2:p.Ala466HisfsTer4
XM_005248331.2:c.1396del	XP_005248388.1:p.Ala466HisfsTer4
XM_011514072.1:c.1396del	XP_011512374.1:p.Ala466HisfsTer4
XM_011514073.1:c.1396del	XP_011512375.1:p.Ala466HisfsTer4
XR_925638.1:n.1529del
NM_001330758.1:c.1396del	NP_001317687.1:p.Ala466HisfsTer4
XM_011514072.2:c.1396del	XP_011512374.1:p.Ala466HisfsTer4
XM_011514073.2:c.1396del	XP_011512375.1:p.Ala466HisfsTer4
XM_017009685.2:c.1396del	XP_016865174.1:p.Ala466HisfsTer4
XM_024446143.1:c.1252del	XP_024301911.1:p.Ala418HisfsTer4
XR_002956167.1:n.1443del
NM_004168.4:c.1396del MANE Select	NP_004159.2:p.Ala466HisfsTer4
NM_001294332.2:c.1252del	NP_001281261.1:p.Ala418HisfsTer4
NM_001330758.2:c.1396del	NP_001317687.1:p.Ala466HisfsTer4