Canonical Allele Identifier: CA358998832
Community Standard Title: NM_004168.4(SDHA):c.1643A>G (p.His548Arg)
Gene: SDHA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.251083A>G , CM000667.2:g.251083A>G GRCh38
NC_000005.9:g.251198A>G , CM000667.1:g.251198A>G GRCh37
NC_000005.8:g.304198A>G NCBI36
NG_012339.1:g.37843A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004168.4:c.1643A>G MANE Select NP_004159.2:p.His548Arg
ENST00000264932.11:c.1643A>G MANE Select ENSP00000264932.6:p.His548Arg
NM_001294332.1:c.1499A>G NP_001281261.1:p.His500Arg
NM_001294332.2:c.1499A>G NP_001281261.1:p.His500Arg
NM_001330758.1:c.1552-3310A>G NP_001317687.1:n.1552-3310A>G
NM_001330758.2:c.1552-3310A>G NP_001317687.1:n.1552-3310A>G
NM_004168.3:c.1643A>G NP_004159.2:p.His548Arg
ENST00000264932.10:c.1643A>G ENSP00000264932.6:p.His548Arg
ENST00000503674.5:n.1815A>G
ENST00000504309.5:c.1552-3310A>G ENSP00000426514.1:n.1552-3310A>G
ENST00000505555.5:n.1683A>G
ENST00000507266.1:n.390A>G
ENST00000509082.1:n.85+40A>G
ENST00000510361.5:c.1499A>G ENSP00000427703.1:p.His500Arg
ENST00000511810.5:n.2390A>G
ENST00000514027.5:n.1598A>G
ENST00000515752.5:n.1229A>G
ENST00000515815.5:c.207-3275A>G
ENST00000617470.4:c.1208A>G ENSP00000484230.1:p.His403Arg
ENST00000651543.1:c.*376A>G ENSP00000499215.1:n.*376A>G
XM_005248331.2:c.1552-3310A>G XP_005248388.1:n.1552-3310A>G
XM_011514072.1:c.1643A>G XP_011512374.1:p.His548Arg
XM_011514072.2:c.1643A>G XP_011512374.1:p.His548Arg
XM_011514073.1:c.1552-3310A>G XP_011512375.1:n.1552-3310A>G
XM_011514073.2:c.1552-3310A>G XP_011512375.1:n.1552-3310A>G
XM_017009685.2:c.1643A>G XP_016865174.1:p.His548Arg
XM_024446143.1:c.1499A>G XP_024301911.1:p.His500Arg
XR_002956167.1:n.1690A>G
XR_925638.1:n.1776A>G