Canonical Allele Identifier: CA421501010
Community Standard Title: NM_003001.5(SDHC):c.264G>A (p.Ser88=)
Gene: SDHC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161356699G>A , CM000663.2:g.161356699G>A GRCh38
NC_000001.10:g.161326489G>A , CM000663.1:g.161326489G>A GRCh37
NC_000001.9:g.159593113G>A NCBI36
NG_012767.1:g.47324G>A , LRG_317:g.47324G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003001.5:c.264G>A MANE Select NP_002992.1:p.Ser88=
ENST00000367975.7:c.264G>A MANE Select ENSP00000356953.3:p.Ser88=
NM_001035511.1:c.242-5630G>A NP_001030588.1:n.242-5630G>A
NM_001035511.2:c.242-5630G>A NP_001030588.1:n.242-5630G>A
NM_001035512.1:c.162G>A NP_001030589.1:p.Ser54=
NM_001035512.2:c.162G>A NP_001030589.1:p.Ser54=
NM_001035513.1:c.105G>A NP_001030590.1:p.Ser35=
NM_001035513.2:c.105G>A NP_001030590.1:p.Ser35=
NM_001278172.1:c.140-5630G>A NP_001265101.1:n.140-5630G>A
NM_001278172.2:c.140-5630G>A NP_001265101.1:n.140-5630G>A
NM_003001.3:c.264G>A , LRG_317t1:c.264G>A NP_002992.1:p.Ser88=
NR_103459.1:n.321G>A
NR_103459.2:n.316G>A
ENST00000342751.8:c.242-5630G>A ENSP00000356952.3:n.242-5630G>A
ENST00000367975.6:c.264G>A ENSP00000356953.2:p.Ser88=
ENST00000392169.6:c.105G>A ENSP00000376009.2:p.Ser35=
ENST00000432287.6:c.162G>A ENSP00000390558.2:p.Ser54=
ENST00000470743.4:c.362G>A
ENST00000470743.5:c.*265G>A ENSP00000482902.2:n.*265G>A
ENST00000504963.5:c.*87G>A ENSP00000423929.1:n.*87G>A
ENST00000513009.5:c.140-5630G>A ENSP00000423260.1:n.140-5630G>A