Canonical Allele Identifier: CA359013806
Gene: SDHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.236431C>G , CM000667.2:g.236431C>G GRCh38
NC_000005.9:g.236546C>G , CM000667.1:g.236546C>G GRCh37
NC_000005.8:g.289546C>G NCBI36
NG_012339.1:g.23191C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264932.11:c.1264C>G MANE Select ENSP00000264932.6:p.Leu422Val
ENST00000651543.1:c.1068C>G ENSP00000499215.1:p.Ser356=
ENST00000264932.10:c.1264C>G ENSP00000264932.6:p.Leu422Val
ENST00000504309.5:c.1264C>G ENSP00000426514.1:p.Leu422Val
ENST00000505555.5:n.1304C>G
ENST00000510361.5:c.1120C>G ENSP00000427703.1:p.Leu374Val
ENST00000511810.5:n.2011C>G
ENST00000512962.5:n.850C>G
ENST00000514027.5:n.1219C>G
ENST00000515752.5:n.850C>G
ENST00000617470.4:c.829C>G ENSP00000484230.1:p.Leu277Val
NM_001294332.1:c.1120C>G NP_001281261.1:p.Leu374Val
NM_004168.3:c.1264C>G NP_004159.2:p.Leu422Val
XM_005248331.2:c.1264C>G XP_005248388.1:p.Leu422Val
XM_011514072.1:c.1264C>G XP_011512374.1:p.Leu422Val
XM_011514073.1:c.1264C>G XP_011512375.1:p.Leu422Val
XR_925638.1:n.1397C>G
NM_001330758.1:c.1264C>G NP_001317687.1:p.Leu422Val
XM_011514072.2:c.1264C>G XP_011512374.1:p.Leu422Val
XM_011514073.2:c.1264C>G XP_011512375.1:p.Leu422Val
XM_017009685.2:c.1264C>G XP_016865174.1:p.Leu422Val
XM_024446143.1:c.1120C>G XP_024301911.1:p.Leu374Val
XR_002956167.1:n.1311C>G
NM_004168.4:c.1264C>G MANE Select NP_004159.2:p.Leu422Val
NM_001294332.2:c.1120C>G NP_001281261.1:p.Leu374Val
NM_001330758.2:c.1264C>G NP_001317687.1:p.Leu422Val