Canonical Allele Identifier: CA421501076
Community Standard Title: NM_003001.5(SDHC):c.357A>G (p.Ala119=)
Gene: SDHC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161356792A>G , CM000663.2:g.161356792A>G GRCh38
NC_000001.10:g.161326582A>G , CM000663.1:g.161326582A>G GRCh37
NC_000001.9:g.159593206A>G NCBI36
NG_012767.1:g.47417A>G , LRG_317:g.47417A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003001.5:c.357A>G MANE Select NP_002992.1:p.Ala119=
ENST00000367975.7:c.357A>G MANE Select ENSP00000356953.3:p.Ala119=
NM_001035511.1:c.242-5537A>G NP_001030588.1:n.242-5537A>G
NM_001035511.2:c.242-5537A>G NP_001030588.1:n.242-5537A>G
NM_001035512.1:c.255A>G NP_001030589.1:p.Ala85=
NM_001035512.2:c.255A>G NP_001030589.1:p.Ala85=
NM_001035513.1:c.198A>G NP_001030590.1:p.Ala66=
NM_001035513.2:c.198A>G NP_001030590.1:p.Ala66=
NM_001278172.1:c.140-5537A>G NP_001265101.1:n.140-5537A>G
NM_001278172.2:c.140-5537A>G NP_001265101.1:n.140-5537A>G
NM_003001.3:c.357A>G , LRG_317t1:c.357A>G NP_002992.1:p.Ala119=
NR_103459.1:n.414A>G
NR_103459.2:n.409A>G
ENST00000342751.8:c.242-5537A>G ENSP00000356952.3:n.242-5537A>G
ENST00000367975.6:c.357A>G ENSP00000356953.2:p.Ala119=
ENST00000392169.6:c.198A>G ENSP00000376009.2:p.Ala66=
ENST00000432287.6:c.255A>G ENSP00000390558.2:p.Ala85=
ENST00000470743.4:c.455A>G
ENST00000470743.5:c.*358A>G ENSP00000482902.2:n.*358A>G
ENST00000504963.5:c.*180A>G ENSP00000423929.1:n.*180A>G
ENST00000513009.5:c.140-5537A>G ENSP00000423260.1:n.140-5537A>G