Canonical Allele Identifier: CA343456727

Gene: SDHC

Linked Data

• MyVariant Identifiers: chr1:g.161326615T>A (hg19) ; chr1:g.161356825T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161356825T>A , CM000663.2:g.161356825T>A	GRCh38
NC_000001.10:g.161326615T>A , CM000663.1:g.161326615T>A	GRCh37
NC_000001.9:g.159593239T>A	NCBI36
NG_012767.1:g.47450T>A , LRG_317:g.47450T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470743.5:c.*391T>A	ENSP00000482902.2:n.*391T>A
ENST00000367975.7:c.390T>A MANE Select	ENSP00000356953.3:p.Asn130Lys
ENST00000342751.8:c.242-5504T>A	ENSP00000356952.3:n.242-5504T>A
ENST00000367975.6:c.390T>A	ENSP00000356953.2:p.Asn130Lys
ENST00000392169.6:c.231T>A	ENSP00000376009.2:p.Asn77Lys
ENST00000432287.6:c.288T>A	ENSP00000390558.2:p.Asn96Lys
ENST00000470743.4:c.488T>A
ENST00000504963.5:c.*213T>A	ENSP00000423929.1:n.*213T>A
ENST00000513009.5:c.140-5504T>A	ENSP00000423260.1:n.140-5504T>A
NM_001035511.1:c.242-5504T>A	NP_001030588.1:n.242-5504T>A
NM_001035512.1:c.288T>A	NP_001030589.1:p.Asn96Lys
NM_001035513.1:c.231T>A	NP_001030590.1:p.Asn77Lys
NM_001278172.1:c.140-5504T>A	NP_001265101.1:n.140-5504T>A
NM_003001.3:c.390T>A , LRG_317t1:c.390T>A	NP_002992.1:p.Asn130Lys
NR_103459.1:n.447T>A
NM_001035511.2:c.242-5504T>A	NP_001030588.1:n.242-5504T>A
NM_001035512.2:c.288T>A	NP_001030589.1:p.Asn96Lys
NM_001035513.2:c.231T>A	NP_001030590.1:p.Asn77Lys
NM_001278172.2:c.140-5504T>A	NP_001265101.1:n.140-5504T>A
NM_003001.5:c.390T>A MANE Select	NP_002992.1:p.Asn130Lys
NR_103459.2:n.442T>A