Canonical Allele Identifier: CA9393678
Gene: SDHAF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280451
ClinVar RCV Id: RCV000304255 RCV001332725 RCV002272202
dbSNP Id: rs768768823
ExAC: 19:36486332 C / A
gnomAD v2: 19-36486332-C-A
gnomAD v4: 19-35995430-C-A
MyVariant Identifiers: chr19:g.36486332C>A (hg19) chr19:g.35995430C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35995430C>A , CM000681.2:g.35995430C>A GRCh38
NC_000019.9:g.36486332C>A , CM000681.1:g.36486332C>A GRCh37
NC_000019.8:g.41178172C>A NCBI36
NG_016869.1:g.5243C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378887.4:c.156C>A MANE Select ENSP00000368165.2:p.Tyr52Ter
ENST00000378887.3:c.156C>A ENSP00000368165.2:p.Tyr52Ter
NM_001042631.2:c.156C>A NP_001036096.1:p.Tyr52Ter
NM_001042631.3:c.156C>A MANE Select NP_001036096.2:p.Tyr52Ter
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