Canonical Allele Identifier: CA442692130

Gene: SDHA

Linked Data

• ClinVar Variation Id: 2115934
• ClinVar RCV Id: RCV003046708
• dbSNP Id: rs2126590303
• COSMIC: COSM5420827
• MyVariant Identifiers: chr5:g.236662G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.236547G>A , CM000667.2:g.236547G>A	GRCh38
NC_000005.9:g.236662G>A , CM000667.1:g.236662G>A	GRCh37
NC_000005.8:g.289662G>A	NCBI36
NG_012339.1:g.23307G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1380G>A MANE Select	ENSP00000264932.6:p.Leu460=
ENST00000651543.1:c.*113G>A	ENSP00000499215.1:n.*113G>A
ENST00000264932.10:c.1380G>A	ENSP00000264932.6:p.Leu460=
ENST00000504309.5:c.1380G>A	ENSP00000426514.1:p.Leu460=
ENST00000505555.5:n.1420G>A
ENST00000510361.5:c.1236G>A	ENSP00000427703.1:p.Leu412=
ENST00000511810.5:n.2127G>A
ENST00000514027.5:n.1335G>A
ENST00000515752.5:n.966G>A
ENST00000515815.5:c.35G>A
ENST00000617470.4:c.945G>A	ENSP00000484230.1:p.Leu315=
NM_001294332.1:c.1236G>A	NP_001281261.1:p.Leu412=
NM_004168.3:c.1380G>A	NP_004159.2:p.Leu460=
XM_005248331.2:c.1380G>A	XP_005248388.1:p.Leu460=
XM_011514072.1:c.1380G>A	XP_011512374.1:p.Leu460=
XM_011514073.1:c.1380G>A	XP_011512375.1:p.Leu460=
XR_925638.1:n.1513G>A
NM_001330758.1:c.1380G>A	NP_001317687.1:p.Leu460=
XM_011514072.2:c.1380G>A	XP_011512374.1:p.Leu460=
XM_011514073.2:c.1380G>A	XP_011512375.1:p.Leu460=
XM_017009685.2:c.1380G>A	XP_016865174.1:p.Leu460=
XM_024446143.1:c.1236G>A	XP_024301911.1:p.Leu412=
XR_002956167.1:n.1427G>A
NM_004168.4:c.1380G>A MANE Select	NP_004159.2:p.Leu460=
NM_001294332.2:c.1236G>A	NP_001281261.1:p.Leu412=
NM_001330758.2:c.1380G>A	NP_001317687.1:p.Leu460=