Canonical Allele Identifier: CA343365949

Gene: SDHC

Linked Data

• ClinVar Variation Id: 438444
• ClinVar RCV Id: RCV000505336
• dbSNP Id: rs1553264219
• MyVariant Identifiers: chr1:g.161310422G>A (hg19) ; chr1:g.161340632G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161340632G>A , CM000663.2:g.161340632G>A	GRCh38
NC_000001.10:g.161310422G>A , CM000663.1:g.161310422G>A	GRCh37
NC_000001.9:g.159577046G>A	NCBI36
NG_012767.1:g.31257G>A , LRG_317:g.31257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*219G>A	ENSP00000482902.2:n.*219G>A
ENST00000367975.7:c.218G>A MANE Select	ENSP00000356953.3:p.Gly73Asp
ENST00000342751.8:c.218G>A	ENSP00000356952.3:p.Gly73Asp
ENST00000367975.6:c.218G>A	ENSP00000356953.2:p.Gly73Asp
ENST00000392169.6:c.59G>A	ENSP00000376009.2:p.Gly20Asp
ENST00000432287.6:c.116G>A	ENSP00000390558.2:p.Gly39Asp
ENST00000470743.4:c.316G>A
ENST00000504963.5:c.*41G>A	ENSP00000423929.1:n.*41G>A
ENST00000513009.5:c.116G>A	ENSP00000423260.1:p.Gly39Asp
NM_001035511.1:c.218G>A	NP_001030588.1:p.Gly73Asp
NM_001035512.1:c.116G>A	NP_001030589.1:p.Gly39Asp
NM_001035513.1:c.59G>A	NP_001030590.1:p.Gly20Asp
NM_001278172.1:c.116G>A	NP_001265101.1:p.Gly39Asp
NM_003001.3:c.218G>A , LRG_317t1:c.218G>A	NP_002992.1:p.Gly73Asp
NR_103459.1:n.275G>A
NM_001035511.2:c.218G>A	NP_001030588.1:p.Gly73Asp
NM_001035512.2:c.116G>A	NP_001030589.1:p.Gly39Asp
NM_001035513.2:c.59G>A	NP_001030590.1:p.Gly20Asp
NM_001278172.2:c.116G>A	NP_001265101.1:p.Gly39Asp
NM_003001.5:c.218G>A MANE Select	NP_002992.1:p.Gly73Asp
NR_103459.2:n.270G>A