Canonical Allele Identifier: CA3173145

Gene: SDHA

Linked Data

• ClinVar Variation Id: 472312
• ClinVar RCV Id: RCV000544502 ; RCV000564411 ; RCV002291665 ; RCV003319374 ; RCV003451191 ; RCV003476306
• dbSNP Id: rs768055345
• ExAC: 5:235428 G / A
• gnomAD v2: 5-235428-G-A
• gnomAD v3: 5-235313-G-A
• gnomAD v4: 5-235313-G-A
• MyVariant Identifiers: chr5:g.235428G>A (hg19) ; chr5:g.235313G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.235313G>A , CM000667.2:g.235313G>A	GRCh38
NC_000005.9:g.235428G>A , CM000667.1:g.235428G>A	GRCh37
NC_000005.8:g.288428G>A	NCBI36
NG_012339.1:g.22073G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1234G>A MANE Select	ENSP00000264932.6:p.Gly412Ser
ENST00000651543.1:c.1065-1115G>A	ENSP00000499215.1:n.1065-1115G>A
ENST00000264932.10:c.1234G>A	ENSP00000264932.6:p.Gly412Ser
ENST00000504309.5:c.1234G>A	ENSP00000426514.1:p.Gly412Ser
ENST00000504824.5:n.1219G>A
ENST00000505555.5:n.1274G>A
ENST00000510361.5:c.1090G>A	ENSP00000427703.1:p.Gly364Ser
ENST00000511810.5:n.893G>A
ENST00000512962.5:n.721-989G>A
ENST00000514027.5:n.1189G>A
ENST00000515752.5:n.721-989G>A
ENST00000617470.4:c.799G>A	ENSP00000484230.1:p.Gly267Ser
NM_001294332.1:c.1090G>A	NP_001281261.1:p.Gly364Ser
NM_004168.3:c.1234G>A	NP_004159.2:p.Gly412Ser
XM_005248331.2:c.1234G>A	XP_005248388.1:p.Gly412Ser
XM_011514072.1:c.1234G>A	XP_011512374.1:p.Gly412Ser
XM_011514073.1:c.1234G>A	XP_011512375.1:p.Gly412Ser
XR_925638.1:n.1367G>A
NM_001330758.1:c.1234G>A	NP_001317687.1:p.Gly412Ser
XM_011514072.2:c.1234G>A	XP_011512374.1:p.Gly412Ser
XM_011514073.2:c.1234G>A	XP_011512375.1:p.Gly412Ser
XM_017009685.2:c.1234G>A	XP_016865174.1:p.Gly412Ser
XM_024446143.1:c.1090G>A	XP_024301911.1:p.Gly364Ser
XR_002956167.1:n.1281G>A
NM_004168.4:c.1234G>A MANE Select	NP_004159.2:p.Gly412Ser
NM_001294332.2:c.1090G>A	NP_001281261.1:p.Gly364Ser
NM_001330758.2:c.1234G>A	NP_001317687.1:p.Gly412Ser