Canonical Allele Identifier: CA658657415

Gene: SDHA

Linked Data

• ClinVar Variation Id: 486398
• ClinVar RCV Id: RCV000564814
• dbSNP Id: rs1553996331
• gnomAD v4: 5-218351-C-CA
• MyVariant Identifiers: chr5:g.218467dup (hg19) ; chr5:g.218352dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.218352dup , CM000667.2:g.218352dup	GRCh38
NC_000005.9:g.218467dup , CM000667.1:g.218467dup	GRCh37
NC_000005.8:g.271467dup	NCBI36
NG_012339.1:g.5112dup
NG_033064.1:g.4831dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.-4dup MANE Select	ENSP00000264932.6:n.-4dup
ENST00000651543.1:c.-4dup	ENSP00000499215.1:n.-4dup
ENST00000264932.10:c.-4dup	ENSP00000264932.6:n.-4dup
ENST00000502379.5:n.42dup
ENST00000504309.5:c.-4dup	ENSP00000426514.1:n.-4dup
ENST00000505555.5:n.37dup
ENST00000509632.5:c.-4dup	ENSP00000425077.1:n.-4dup
ENST00000510361.5:c.-4dup	ENSP00000427703.1:n.-4dup
ENST00000617470.4:c.-4dup	ENSP00000484230.1:n.-4dup
NM_001294332.1:c.-4dup	NP_001281261.1:n.-4dup
NM_004168.3:c.-4dup	NP_004159.2:n.-4dup
XM_005248331.2:c.-4dup	XP_005248388.1:n.-4dup
XM_011514072.1:c.-4dup	XP_011512374.1:n.-4dup
XM_011514073.1:c.-4dup	XP_011512375.1:n.-4dup
XR_925638.1:n.130dup
NM_001330758.1:c.-4dup	NP_001317687.1:n.-4dup
XM_011514072.2:c.-4dup	XP_011512374.1:n.-4dup
XM_011514073.2:c.-4dup	XP_011512375.1:n.-4dup
XM_017009685.2:c.-4dup	XP_016865174.1:n.-4dup
XM_024446143.1:c.-4dup	XP_024301911.1:n.-4dup
XR_002956167.1:n.44dup
NM_004168.4:c.-4dup MANE Select	NP_004159.2:n.-4dup
NM_001294332.2:c.-4dup	NP_001281261.1:n.-4dup
NM_001330758.2:c.-4dup	NP_001317687.1:n.-4dup