Canonical Allele Identifier: CA2000554210
Community Standard Title: NM_003002.4(SDHD):c.479G= (p.Ter160=)
Gene: SDHD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094969G= , CM000673.2:g.112094969G= GRCh38
NC_000011.9:g.111965693G= , CM000673.1:g.111965693G= GRCh37
NC_000011.8:g.111470903G= NCBI36
NG_012337.2:g.13123G=
NG_012337.3:g.13123G=

Transcript Alleles

HGVS Amino-acid Change
NM_003002.4:c.479G= MANE Select NP_002993.1:p.Ter160=
ENST00000375549.8:c.479G= MANE Select ENSP00000364699.3:p.Ter160=
NM_001276503.1:c.*76G= NP_001263432.1:n.*76G=
NM_001276503.2:c.*76G= NP_001263432.1:n.*76G=
NM_001276504.1:c.362G= NP_001263433.1:p.Ter121=
NM_001276504.2:c.362G= NP_001263433.1:p.Ter121=
NM_001276506.1:c.*177G= NP_001263435.1:n.*177G=
NM_001276506.2:c.*177G= NP_001263435.1:n.*177G=
NM_003002.3:c.479G= NP_002993.1:p.Ter160=
NR_077060.1:n.617G=
NR_077060.2:n.568G=
ENST00000375549.7:c.479G= ENSP00000364699.3:p.Ter160=
ENST00000525291.5:c.362G= ENSP00000436669.1:p.Ter121=
ENST00000525987.5:n.319+5958G=
ENST00000526592.5:c.*177G= ENSP00000432005.1:n.*177G=
ENST00000528021.5:c.314+5958G= ENSP00000432465.1:n.314+5958G=
ENST00000528021.6:c.314+5958G= ENSP00000432465.1:n.314+5958G=
ENST00000528048.5:c.*76G= ENSP00000436217.1:n.*76G=
ENST00000528182.5:c.*76G= ENSP00000435475.1:n.*76G=
ENST00000530923.5:c.523G=
ENST00000530923.6:c.*218G= ENSP00000432946.2:n.*218G=
ENST00000531744.5:c.314+5958G= ENSP00000456957.1:n.314+5958G=
ENST00000532699.1:c.314+5958G= ENSP00000456434.1:n.314+5958G=
ENST00000534010.1:c.145+5958G=
ENST00000534010.2:c.314+5958G= ENSP00000433202.2:n.314+5958G=