Canonical Allele Identifier: CA382619315
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 1060148
dbSNP Id: rs2135277691

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094909G>A , CM000673.2:g.112094909G>A GRCh38
NC_000011.9:g.111965633G>A , CM000673.1:g.111965633G>A GRCh37
NC_000011.8:g.111470843G>A NCBI36
NG_012337.2:g.13063G>A
NG_012337.3:g.13063G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.*158G>A ENSP00000432946.2:n.*158G>A
ENST00000534010.2:c.314+5898G>A ENSP00000433202.2:n.314+5898G>A
ENST00000375549.8:c.419G>A MANE Select ENSP00000364699.3:p.Cys140Tyr
ENST00000528021.6:c.314+5898G>A ENSP00000432465.1:n.314+5898G>A
ENST00000375549.7:c.419G>A ENSP00000364699.3:p.Cys140Tyr
ENST00000525291.5:c.302G>A ENSP00000436669.1:p.Cys101Tyr
ENST00000525987.5:n.319+5898G>A
ENST00000526592.5:c.*117G>A ENSP00000432005.1:n.*117G>A
ENST00000528021.5:c.314+5898G>A ENSP00000432465.1:n.314+5898G>A
ENST00000528048.5:c.*16G>A ENSP00000436217.1:n.*16G>A
ENST00000528182.5:c.*16G>A ENSP00000435475.1:n.*16G>A
ENST00000530923.5:c.463G>A
ENST00000531744.5:c.314+5898G>A ENSP00000456957.1:n.314+5898G>A
ENST00000532699.1:c.314+5898G>A ENSP00000456434.1:n.314+5898G>A
ENST00000534010.1:c.145+5898G>A
NM_001276503.1:c.*16G>A NP_001263432.1:n.*16G>A
NM_001276504.1:c.302G>A NP_001263433.1:p.Cys101Tyr
NM_001276506.1:c.*117G>A NP_001263435.1:n.*117G>A
NM_003002.3:c.419G>A NP_002993.1:p.Cys140Tyr
NR_077060.1:n.557G>A
NM_003002.4:c.419G>A MANE Select NP_002993.1:p.Cys140Tyr
NM_001276503.2:c.*16G>A NP_001263432.1:n.*16G>A
NM_001276504.2:c.302G>A NP_001263433.1:p.Cys101Tyr
NM_001276506.2:c.*117G>A NP_001263435.1:n.*117G>A
NR_077060.2:n.508G>A