Canonical Allele Identifier: CA2708148274
Gene: SDHA HGNC NCBI

Linked Data

dbSNP Id: rs2126602447

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.240367dup , CM000667.2:g.240367dup GRCh38
NC_000005.9:g.240482dup , CM000667.1:g.240482dup GRCh37
NC_000005.8:g.293482dup NCBI36
NG_012339.1:g.27127dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264932.11:c.1442dup MANE Select ENSP00000264932.6:p.Pro483SerfsTer3
ENST00000651543.1:c.*175dup ENSP00000499215.1:n.*175dup
ENST00000264932.10:c.1442dup ENSP00000264932.6:p.Pro483SerfsTer3
ENST00000504309.5:c.1442dup ENSP00000426514.1:p.Pro483SerfsTer3
ENST00000505555.5:n.1482dup
ENST00000510361.5:c.1298dup ENSP00000427703.1:p.Pro435SerfsTer3
ENST00000511810.5:n.2189dup
ENST00000514027.5:n.1397dup
ENST00000515752.5:n.1028dup
ENST00000515815.5:c.97dup
ENST00000617470.4:c.1007dup ENSP00000484230.1:p.Pro338SerfsTer3
NM_001294332.1:c.1298dup NP_001281261.1:p.Pro435SerfsTer3
NM_004168.3:c.1442dup NP_004159.2:p.Pro483SerfsTer3
XM_005248331.2:c.1442dup XP_005248388.1:p.Pro483SerfsTer3
XM_011514072.1:c.1442dup XP_011512374.1:p.Pro483SerfsTer3
XM_011514073.1:c.1442dup XP_011512375.1:p.Pro483SerfsTer3
XR_925638.1:n.1575dup
NM_001330758.1:c.1442dup NP_001317687.1:p.Pro483SerfsTer3
XM_011514072.2:c.1442dup XP_011512374.1:p.Pro483SerfsTer3
XM_011514073.2:c.1442dup XP_011512375.1:p.Pro483SerfsTer3
XM_017009685.2:c.1442dup XP_016865174.1:p.Pro483SerfsTer3
XM_024446143.1:c.1298dup XP_024301911.1:p.Pro435SerfsTer3
XR_002956167.1:n.1489dup
NM_004168.4:c.1442dup MANE Select NP_004159.2:p.Pro483SerfsTer3
NM_001294332.2:c.1298dup NP_001281261.1:p.Pro435SerfsTer3
NM_001330758.2:c.1442dup NP_001317687.1:p.Pro483SerfsTer3