Canonical Allele Identifier: CA382619167
Gene: SDHD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094881C>A , CM000673.2:g.112094881C>A GRCh38
NC_000011.9:g.111965605C>A , CM000673.1:g.111965605C>A GRCh37
NC_000011.8:g.111470815C>A NCBI36
NG_012337.2:g.13035C>A
NG_012337.3:g.13035C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.*130C>A ENSP00000432946.2:n.*130C>A
ENST00000534010.2:c.314+5870C>A ENSP00000433202.2:n.314+5870C>A
ENST00000375549.8:c.391C>A MANE Select ENSP00000364699.3:p.Leu131Ile
ENST00000528021.6:c.314+5870C>A ENSP00000432465.1:n.314+5870C>A
ENST00000375549.7:c.391C>A ENSP00000364699.3:p.Leu131Ile
ENST00000525291.5:c.274C>A ENSP00000436669.1:p.Leu92Ile
ENST00000525987.5:n.319+5870C>A
ENST00000526592.5:c.*89C>A ENSP00000432005.1:n.*89C>A
ENST00000528021.5:c.314+5870C>A ENSP00000432465.1:n.314+5870C>A
ENST00000528048.5:c.246C>A ENSP00000436217.1:p.His82Gln
ENST00000528182.5:c.384C>A ENSP00000435475.1:p.His128Gln
ENST00000530923.5:c.435C>A
ENST00000531744.5:c.314+5870C>A ENSP00000456957.1:n.314+5870C>A
ENST00000532699.1:c.314+5870C>A ENSP00000456434.1:n.314+5870C>A
ENST00000534010.1:c.145+5870C>A
NM_001276503.1:c.246C>A NP_001263432.1:p.His82Gln
NM_001276504.1:c.274C>A NP_001263433.1:p.Leu92Ile
NM_001276506.1:c.*89C>A NP_001263435.1:n.*89C>A
NM_003002.3:c.391C>A NP_002993.1:p.Leu131Ile
NR_077060.1:n.529C>A
NM_003002.4:c.391C>A MANE Select NP_002993.1:p.Leu131Ile
NM_001276503.2:c.246C>A NP_001263432.1:p.His82Gln
NM_001276504.2:c.274C>A NP_001263433.1:p.Leu92Ile
NM_001276506.2:c.*89C>A NP_001263435.1:n.*89C>A
NR_077060.2:n.480C>A