Canonical Allele Identifier: CA343361362

Gene: SDHC

Linked Data

• ClinVar Variation Id: 1718074
• ClinVar RCV Id: RCV002296534
• MyVariant Identifiers: chr1:g.161298283T>G (hg19) ; chr1:g.161328493T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161328493T>G , CM000663.2:g.161328493T>G	GRCh38
NC_000001.10:g.161298283T>G , CM000663.1:g.161298283T>G	GRCh37
NC_000001.9:g.159564907T>G	NCBI36
NG_012767.1:g.19118T>G , LRG_317:g.19118T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*176T>G	ENSP00000482902.2:n.*176T>G
ENST00000367975.7:c.175T>G MANE Select	ENSP00000356953.3:p.Tyr59Asp
ENST00000342751.8:c.175T>G	ENSP00000356952.3:p.Tyr59Asp
ENST00000367975.6:c.175T>G	ENSP00000356953.2:p.Tyr59Asp
ENST00000392169.6:c.21-12101T>G	ENSP00000376009.2:n.21-12101T>G
ENST00000432287.6:c.77+4823T>G	ENSP00000390558.2:n.77+4823T>G
ENST00000470743.4:c.273T>G
ENST00000504963.5:c.175T>G	ENSP00000423929.1:p.Tyr59Asp
ENST00000513009.5:c.77+4823T>G	ENSP00000423260.1:n.77+4823T>G
ENST00000515731.1:n.649T>G
NM_001035511.1:c.175T>G	NP_001030588.1:p.Tyr59Asp
NM_001035512.1:c.77+4823T>G	NP_001030589.1:n.77+4823T>G
NM_001035513.1:c.21-12101T>G	NP_001030590.1:n.21-12101T>G
NM_001278172.1:c.77+4823T>G	NP_001265101.1:n.77+4823T>G
NM_003001.3:c.175T>G , LRG_317t1:c.175T>G	NP_002992.1:p.Tyr59Asp
NR_103459.1:n.205T>G
NM_001035511.2:c.175T>G	NP_001030588.1:p.Tyr59Asp
NM_001035512.2:c.77+4823T>G	NP_001030589.1:n.77+4823T>G
NM_001035513.2:c.21-12101T>G	NP_001030590.1:n.21-12101T>G
NM_001278172.2:c.77+4823T>G	NP_001265101.1:n.77+4823T>G
NM_003001.5:c.175T>G MANE Select	NP_002992.1:p.Tyr59Asp
NR_103459.2:n.200T>G