Canonical Allele Identifier: CA382619046
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 662467
dbSNP Id: rs1592786256

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094864A>G , CM000673.2:g.112094864A>G GRCh38
NC_000011.9:g.111965588A>G , CM000673.1:g.111965588A>G GRCh37
NC_000011.8:g.111470798A>G NCBI36
NG_012337.2:g.13018A>G
NG_012337.3:g.13018A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.*113A>G ENSP00000432946.2:n.*113A>G
ENST00000534010.2:c.314+5853A>G ENSP00000433202.2:n.314+5853A>G
ENST00000375549.8:c.374A>G MANE Select ENSP00000364699.3:p.Lys125Arg
ENST00000528021.6:c.314+5853A>G ENSP00000432465.1:n.314+5853A>G
ENST00000375549.7:c.374A>G ENSP00000364699.3:p.Lys125Arg
ENST00000525291.5:c.257A>G ENSP00000436669.1:p.Lys86Arg
ENST00000525987.5:n.319+5853A>G
ENST00000526592.5:c.*72A>G ENSP00000432005.1:n.*72A>G
ENST00000528021.5:c.314+5853A>G ENSP00000432465.1:n.314+5853A>G
ENST00000528048.5:c.229A>G ENSP00000436217.1:p.Arg77Gly
ENST00000528182.5:c.367A>G ENSP00000435475.1:p.Arg123Gly
ENST00000530923.5:c.418A>G
ENST00000531744.5:c.314+5853A>G ENSP00000456957.1:n.314+5853A>G
ENST00000532699.1:c.314+5853A>G ENSP00000456434.1:n.314+5853A>G
ENST00000534010.1:c.145+5853A>G
NM_001276503.1:c.229A>G NP_001263432.1:p.Arg77Gly
NM_001276504.1:c.257A>G NP_001263433.1:p.Lys86Arg
NM_001276506.1:c.*72A>G NP_001263435.1:n.*72A>G
NM_003002.3:c.374A>G NP_002993.1:p.Lys125Arg
NR_077060.1:n.512A>G
NM_003002.4:c.374A>G MANE Select NP_002993.1:p.Lys125Arg
NM_001276503.2:c.229A>G NP_001263432.1:p.Arg77Gly
NM_001276504.2:c.257A>G NP_001263433.1:p.Lys86Arg
NM_001276506.2:c.*72A>G NP_001263435.1:n.*72A>G
NR_077060.2:n.463A>G