Canonical Allele Identifier: CA1521983255

Gene: SDHA

Linked Data

• ClinVar Variation Id: 1027330
• ClinVar RCV Id: RCV001327910
• dbSNP Id: rs1735790227

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.236497_236498delinsTT , CM000667.2:g.236497_236498delinsTT	GRCh38
NC_000005.9:g.236612_236613delinsTT , CM000667.1:g.236612_236613delinsTT	GRCh37
NC_000005.8:g.289612_289613delinsTT	NCBI36
NG_012339.1:g.23257_23258delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1330_1331delinsTT MANE Select	ENSP00000264932.6:p.Ala444Phe
ENST00000651543.1:c.*63_*64delinsTT	ENSP00000499215.1:n.*63_*64delinsTT
ENST00000264932.10:c.1330_1331delinsTT	ENSP00000264932.6:p.Ala444Phe
ENST00000504309.5:c.1330_1331delinsTT	ENSP00000426514.1:p.Ala444Phe
ENST00000505555.5:n.1370_1371delinsTT
ENST00000510361.5:c.1186_1187delinsTT	ENSP00000427703.1:p.Ala396Phe
ENST00000511810.5:n.2077_2078delinsTT
ENST00000512962.5:n.916_917delinsTT
ENST00000514027.5:n.1285_1286delinsTT
ENST00000515752.5:n.916_917delinsTT
ENST00000617470.4:c.895_896delinsTT	ENSP00000484230.1:p.Ala299Phe
NM_001294332.1:c.1186_1187delinsTT	NP_001281261.1:p.Ala396Phe
NM_004168.3:c.1330_1331delinsTT	NP_004159.2:p.Ala444Phe
XM_005248331.2:c.1330_1331delinsTT	XP_005248388.1:p.Ala444Phe
XM_011514072.1:c.1330_1331delinsTT	XP_011512374.1:p.Ala444Phe
XM_011514073.1:c.1330_1331delinsTT	XP_011512375.1:p.Ala444Phe
XR_925638.1:n.1463_1464delinsTT
NM_001330758.1:c.1330_1331delinsTT	NP_001317687.1:p.Ala444Phe
XM_011514072.2:c.1330_1331delinsTT	XP_011512374.1:p.Ala444Phe
XM_011514073.2:c.1330_1331delinsTT	XP_011512375.1:p.Ala444Phe
XM_017009685.2:c.1330_1331delinsTT	XP_016865174.1:p.Ala444Phe
XM_024446143.1:c.1186_1187delinsTT	XP_024301911.1:p.Ala396Phe
XR_002956167.1:n.1377_1378delinsTT
NM_004168.4:c.1330_1331delinsTT MANE Select	NP_004159.2:p.Ala444Phe
NM_001294332.2:c.1186_1187delinsTT	NP_001281261.1:p.Ala396Phe
NM_001330758.2:c.1330_1331delinsTT	NP_001317687.1:p.Ala444Phe