Canonical Allele Identifier: CA10621606

Gene: SDHA

Linked Data

• ClinVar Variation Id: 353198
• ClinVar RCV Id: RCV000307350 ; RCV000370159 ; RCV000399941
• dbSNP Id: rs35805262
• gnomAD v2: 5-218381-T-TC
• gnomAD v3: 5-218266-T-TC
• gnomAD v4: 5-218266-T-TC
• COSMIC: COSN20100903 ; COSN20100904
• MyVariant Identifiers: chr5:g.218387dupC (hg19) ; chr5:g.218387_218388insC (hg19) ; chr5:g.218381_218382insC (hg19) ; chr5:g.218272dupC (hg38) ; chr5:g.218272_218273insC (hg38) ; chr5:g.218266_218267insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.218272dup , CM000667.2:g.218272dup	GRCh38
NC_000005.9:g.218387dup , CM000667.1:g.218387dup	GRCh37
NC_000005.8:g.271387dup	NCBI36
NG_012339.1:g.5032dup
NG_033064.1:g.4916dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.10:c.-84dup	ENSP00000264932.6:n.-84dup
ENST00000617470.4:c.-84dup	ENSP00000484230.1:n.-84dup
NM_001294332.1:c.-84dup	NP_001281261.1:n.-84dup
NM_004168.3:c.-84dup	NP_004159.2:n.-84dup
XM_005248331.2:c.-84dup	XP_005248388.1:n.-84dup
XM_011514072.1:c.-84dup	XP_011512374.1:n.-84dup
XM_011514073.1:c.-84dup	XP_011512375.1:n.-84dup
XR_925638.1:n.50dup
NM_001330758.1:c.-84dup	NP_001317687.1:n.-84dup