Canonical Allele Identifier: CA1521983271
Gene: SDHA HGNC NCBI

Linked Data

dbSNP Id: rs1735790715

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.236501_236502dup , CM000667.2:g.236501_236502dup GRCh38
NC_000005.9:g.236616_236617dup , CM000667.1:g.236616_236617dup GRCh37
NC_000005.8:g.289616_289617dup NCBI36
NG_012339.1:g.23261_23262dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264932.11:c.1334_1335dup MANE Select ENSP00000264932.6:p.Val446ArgfsTer25
ENST00000651543.1:c.*67_*68dup ENSP00000499215.1:n.*67_*68dup
ENST00000264932.10:c.1334_1335dup ENSP00000264932.6:p.Val446ArgfsTer25
ENST00000504309.5:c.1334_1335dup ENSP00000426514.1:p.Val446ArgfsTer25
ENST00000505555.5:n.1374_1375dup
ENST00000510361.5:c.1190_1191dup ENSP00000427703.1:p.Val398ArgfsTer25
ENST00000511810.5:n.2081_2082dup
ENST00000512962.5:n.920_921dup
ENST00000514027.5:n.1289_1290dup
ENST00000515752.5:n.920_921dup
ENST00000617470.4:c.899_900dup ENSP00000484230.1:p.Val301ArgfsTer25
NM_001294332.1:c.1190_1191dup NP_001281261.1:p.Val398ArgfsTer25
NM_004168.3:c.1334_1335dup NP_004159.2:p.Val446ArgfsTer25
XM_005248331.2:c.1334_1335dup XP_005248388.1:p.Val446ArgfsTer25
XM_011514072.1:c.1334_1335dup XP_011512374.1:p.Val446ArgfsTer25
XM_011514073.1:c.1334_1335dup XP_011512375.1:p.Val446ArgfsTer25
XR_925638.1:n.1467_1468dup
NM_001330758.1:c.1334_1335dup NP_001317687.1:p.Val446ArgfsTer25
XM_011514072.2:c.1334_1335dup XP_011512374.1:p.Val446ArgfsTer25
XM_011514073.2:c.1334_1335dup XP_011512375.1:p.Val446ArgfsTer25
XM_017009685.2:c.1334_1335dup XP_016865174.1:p.Val446ArgfsTer25
XM_024446143.1:c.1190_1191dup XP_024301911.1:p.Val398ArgfsTer25
XR_002956167.1:n.1381_1382dup
NM_004168.4:c.1334_1335dup MANE Select NP_004159.2:p.Val446ArgfsTer25
NM_001294332.2:c.1190_1191dup NP_001281261.1:p.Val398ArgfsTer25
NM_001330758.2:c.1334_1335dup NP_001317687.1:p.Val446ArgfsTer25