Canonical Allele Identifier: CA016654
Gene: SDHD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 186590
dbSNP Id: rs786203067

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088995_112088998del , CM000673.2:g.112088995_112088998del GRCh38
NC_000011.9:g.111959719_111959722del , CM000673.1:g.111959719_111959722del GRCh37
NC_000011.8:g.111464929_111464932del NCBI36
NG_012337.2:g.7149_7152del
NG_033145.1:g.2804_2807del
NG_012337.3:g.7149_7152del

Transcript Alleles

HGVS Amino-acid change
NM_001276503.1:c.169+1022_169+1025del VV NP_001263432.1:p.=
NM_001276504.1:c.181_184del VV NP_001263433.1:p.Thr61PhefsTer?
NM_001276506.1:c.298_301del VV NP_001263435.1:p.Thr100PhefsTer?
NM_003002.3:c.298_301del VV NP_002993.1:p.Thr100PhefsTer?
NR_077060.1:n.382_385del
NM_003002.4:c.298_301del VV MANE Preferred NP_002993.1:p.Thr100PhefsTer?
ENST00000375549.7:c.298_301del ENSP00000364699.3:p.Thr100PhefsTer?
ENST00000525291.5:c.181_184del ENSP00000436669.1:p.Thr61PhefsTer?
ENST00000525987.5:n.303_306del
ENST00000526592.5:c.298_301del ENSP00000432005.1:p.Thr100PhefsTer?
ENST00000528021.5:c.298_301del ENSP00000432465.1:p.Thr100PhefsTer?
ENST00000528048.5:c.169+1022_169+1025del ENSP00000436217.1:p.=
ENST00000528182.5:c.298_301del ENSP00000435475.1:p.Thr100PhefsTer10
ENST00000530923.5:n.288_291del
ENST00000531744.5:c.298_301del ENSP00000456957.1:p.Thr100PhefsTer10
ENST00000532699.1:c.298_301del ENSP00000456434.1:p.Thr100PhefsTer10
ENST00000534010.1:n.129_132del
ENST00000614349.4:c.298_301del ENSP00000480666.1:p.Thr100PhefsTer?