Canonical Allele Identifier: CA3172666

Gene: SDHA

Linked Data

• ClinVar Variation Id: 371942
• ClinVar RCV Id: RCV000411889 ; RCV000425129 ; RCV000649475 ; RCV000756629 ; RCV001151931 ; RCV001151932 ; RCV001151933 ; RCV002255377
• dbSNP Id: rs751633537
• ExAC: 5:218464 A / C
• gnomAD v2: 5-218464-A-C
• gnomAD v3: 5-218349-A-C
• gnomAD v4: 5-218349-A-C
• MyVariant Identifiers: chr5:g.218464A>C (hg19) ; chr5:g.218349A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.218349A>C , CM000667.2:g.218349A>C	GRCh38
NC_000005.9:g.218464A>C , CM000667.1:g.218464A>C	GRCh37
NC_000005.8:g.271464A>C	NCBI36
NG_012339.1:g.5109A>C
NG_033064.1:g.4834T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.-7A>C MANE Select	ENSP00000264932.6:n.-7A>C
ENST00000651543.1:c.-7A>C	ENSP00000499215.1:n.-7A>C
ENST00000264932.10:c.-7A>C	ENSP00000264932.6:n.-7A>C
ENST00000502379.5:n.39A>C
ENST00000504309.5:c.-7A>C	ENSP00000426514.1:n.-7A>C
ENST00000505555.5:n.34A>C
ENST00000509632.5:c.-7A>C	ENSP00000425077.1:n.-7A>C
ENST00000510361.5:c.-7A>C	ENSP00000427703.1:n.-7A>C
ENST00000617470.4:c.-7A>C	ENSP00000484230.1:n.-7A>C
NM_001294332.1:c.-7A>C	NP_001281261.1:n.-7A>C
NM_004168.3:c.-7A>C	NP_004159.2:n.-7A>C
XM_005248331.2:c.-7A>C	XP_005248388.1:n.-7A>C
XM_011514072.1:c.-7A>C	XP_011512374.1:n.-7A>C
XM_011514073.1:c.-7A>C	XP_011512375.1:n.-7A>C
XR_925638.1:n.127A>C
NM_001330758.1:c.-7A>C	NP_001317687.1:n.-7A>C
XM_011514072.2:c.-7A>C	XP_011512374.1:n.-7A>C
XM_011514073.2:c.-7A>C	XP_011512375.1:n.-7A>C
XM_017009685.2:c.-7A>C	XP_016865174.1:n.-7A>C
XM_024446143.1:c.-7A>C	XP_024301911.1:n.-7A>C
XR_002956167.1:n.41A>C
NM_004168.4:c.-7A>C MANE Select	NP_004159.2:n.-7A>C
NM_001294332.2:c.-7A>C	NP_001281261.1:n.-7A>C
NM_001330758.2:c.-7A>C	NP_001317687.1:n.-7A>C