Canonical Allele Identifier: CA10624324

Gene: SDHA

Linked Data

• ClinVar Variation Id: 353197
• ClinVar RCV Id: RCV000313041 ; RCV000338764 ; RCV000400671
• dbSNP Id: rs2303741
• gnomAD v2: 5-218356-T-C
• gnomAD v3: 5-218241-T-C
• gnomAD v4: 5-218241-T-C
• MyVariant Identifiers: chr5:g.218356T>C (hg19) ; chr5:g.218241T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.218241T>C , CM000667.2:g.218241T>C	GRCh38
NC_000005.9:g.218356T>C , CM000667.1:g.218356T>C	GRCh37
NC_000005.8:g.271356T>C	NCBI36
NG_012339.1:g.5001T>C
NG_033064.1:g.4942A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.10:c.-115T>C	ENSP00000264932.6:n.-115T>C
ENST00000617470.4:c.-115T>C	ENSP00000484230.1:n.-115T>C
NM_001294332.1:c.-115T>C	NP_001281261.1:n.-115T>C
NM_004168.3:c.-115T>C	NP_004159.2:n.-115T>C
XM_005248331.2:c.-115T>C	XP_005248388.1:n.-115T>C
XM_011514072.1:c.-115T>C	XP_011512374.1:n.-115T>C
XM_011514073.1:c.-115T>C	XP_011512375.1:n.-115T>C
XR_925638.1:n.19T>C
NM_001330758.1:c.-115T>C	NP_001317687.1:n.-115T>C