Canonical Allele Identifier: CA114273
Gene: SDHAF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430
ClinVar RCV Id: RCV000000458
dbSNP Id: rs137853193
MyVariant Identifiers: chr19:g.36486340G>C (hg19) chr19:g.35995438G>C (hg38)
PubMed: PMID:19465911
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35995438G>C , CM000681.2:g.35995438G>C GRCh38
NC_000019.9:g.36486340G>C , CM000681.1:g.36486340G>C GRCh37
NC_000019.8:g.41178180G>C NCBI36
NG_016869.1:g.5251G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378887.4:c.164G>C MANE Select ENSP00000368165.2:p.Arg55Pro
ENST00000378887.3:c.164G>C ENSP00000368165.2:p.Arg55Pro
NM_001042631.2:c.164G>C NP_001036096.1:p.Arg55Pro
NM_001042631.3:c.164G>C MANE Select NP_001036096.2:p.Arg55Pro
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