Canonical Allele Identifier: CA3173072

Gene: SDHA

Linked Data

• dbSNP Id: rs746165168
• ExAC: 5:233750 C / A
• gnomAD v2: 5-233750-C-A
• MyVariant Identifiers: chr5:g.233750C>A (hg19) ; chr5:g.233635C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.233635C>A , CM000667.2:g.233635C>A	GRCh38
NC_000005.9:g.233750C>A , CM000667.1:g.233750C>A	GRCh37
NC_000005.8:g.286750C>A	NCBI36
NG_012339.1:g.20395C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.11:c.1054C>A MANE Select	ENSP00000264932.6:p.Arg352=
ENST00000651543.1:c.1054C>A	ENSP00000499215.1:p.Arg352=
ENST00000264932.10:c.1054C>A	ENSP00000264932.6:p.Arg352=
ENST00000504309.5:c.1054C>A	ENSP00000426514.1:p.Arg352=
ENST00000504824.5:n.1039C>A
ENST00000505555.5:n.1094C>A
ENST00000510361.5:c.910C>A	ENSP00000427703.1:p.Arg304=
ENST00000512962.5:n.217C>A
ENST00000514027.5:n.1009C>A
ENST00000515752.5:n.217C>A
ENST00000617470.4:c.619C>A	ENSP00000484230.1:p.Arg207=
NM_001294332.1:c.910C>A	NP_001281261.1:p.Arg304=
NM_004168.3:c.1054C>A	NP_004159.2:p.Arg352=
XM_005248331.2:c.1054C>A	XP_005248388.1:p.Arg352=
XM_011514072.1:c.1054C>A	XP_011512374.1:p.Arg352=
XM_011514073.1:c.1054C>A	XP_011512375.1:p.Arg352=
XR_925638.1:n.1187C>A
NM_001330758.1:c.1054C>A	NP_001317687.1:p.Arg352=
XM_011514072.2:c.1054C>A	XP_011512374.1:p.Arg352=
XM_011514073.2:c.1054C>A	XP_011512375.1:p.Arg352=
XM_017009685.2:c.1054C>A	XP_016865174.1:p.Arg352=
XM_024446143.1:c.910C>A	XP_024301911.1:p.Arg304=
XR_002956167.1:n.1101C>A
NM_004168.4:c.1054C>A MANE Select	NP_004159.2:p.Arg352=
NM_001294332.2:c.910C>A	NP_001281261.1:p.Arg304=
NM_001330758.2:c.1054C>A	NP_001317687.1:p.Arg352=