Canonical Allele Identifier: CA359013942

Gene: SDHA

Linked Data

• ClinVar Variation Id: 2951374
• ClinVar RCV Id: RCV003805076
• gnomAD v4: 5-236497-G-A
• MyVariant Identifiers: chr5:g.236612G>A (hg19) ; chr5:g.236497G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.236497G>A , CM000667.2:g.236497G>A	GRCh38
NC_000005.9:g.236612G>A , CM000667.1:g.236612G>A	GRCh37
NC_000005.8:g.289612G>A	NCBI36
NG_012339.1:g.23257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1330G>A MANE Select	ENSP00000264932.6:p.Ala444Thr
ENST00000651543.1:c.*63G>A	ENSP00000499215.1:n.*63G>A
ENST00000264932.10:c.1330G>A	ENSP00000264932.6:p.Ala444Thr
ENST00000504309.5:c.1330G>A	ENSP00000426514.1:p.Ala444Thr
ENST00000505555.5:n.1370G>A
ENST00000510361.5:c.1186G>A	ENSP00000427703.1:p.Ala396Thr
ENST00000511810.5:n.2077G>A
ENST00000512962.5:n.916G>A
ENST00000514027.5:n.1285G>A
ENST00000515752.5:n.916G>A
ENST00000617470.4:c.895G>A	ENSP00000484230.1:p.Ala299Thr
NM_001294332.1:c.1186G>A	NP_001281261.1:p.Ala396Thr
NM_004168.3:c.1330G>A	NP_004159.2:p.Ala444Thr
XM_005248331.2:c.1330G>A	XP_005248388.1:p.Ala444Thr
XM_011514072.1:c.1330G>A	XP_011512374.1:p.Ala444Thr
XM_011514073.1:c.1330G>A	XP_011512375.1:p.Ala444Thr
XR_925638.1:n.1463G>A
NM_001330758.1:c.1330G>A	NP_001317687.1:p.Ala444Thr
XM_011514072.2:c.1330G>A	XP_011512374.1:p.Ala444Thr
XM_011514073.2:c.1330G>A	XP_011512375.1:p.Ala444Thr
XM_017009685.2:c.1330G>A	XP_016865174.1:p.Ala444Thr
XM_024446143.1:c.1186G>A	XP_024301911.1:p.Ala396Thr
XR_002956167.1:n.1377G>A
NM_004168.4:c.1330G>A MANE Select	NP_004159.2:p.Ala444Thr
NM_001294332.2:c.1186G>A	NP_001281261.1:p.Ala396Thr
NM_001330758.2:c.1330G>A	NP_001317687.1:p.Ala444Thr