Canonical Allele Identifier: CA017047
Gene: SDHD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6910
ClinVar RCV Id: RCV000007319
dbSNP Id: rs587776647

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094953del , CM000673.2:g.112094953del GRCh38
NC_000011.9:g.111965677del , CM000673.1:g.111965677del GRCh37
NC_000011.8:g.111470887del NCBI36
NG_012337.2:g.13107del
NG_012337.3:g.13107del

Transcript Alleles

HGVS Amino-acid change
NM_001276503.1:c.*60del VV NP_001263432.1:p.=
NM_001276504.1:c.346del VV NP_001263433.1:p.Met116CysfsTer13
NM_001276506.1:c.*161del VV NP_001263435.1:p.=
NM_003002.3:c.463del VV NP_002993.1:p.Met155CysfsTer13
NR_077060.1:n.601del
NM_003002.4:c.463del VV MANE Preferred
ENST00000375549.7:c.463del ENSP00000364699.3:p.Met155CysfsTer13
ENST00000525291.5:c.346del ENSP00000436669.1:p.Met116CysfsTer13
ENST00000525987.5:n.319+5942del
ENST00000526592.5:c.*161del ENSP00000432005.1:p.=
ENST00000528021.5:c.314+5942del ENSP00000432465.1:p.=
ENST00000528048.5:c.*60del ENSP00000436217.1:p.=
ENST00000528182.5:c.*60del ENSP00000435475.1:p.=
ENST00000530923.5:n.507del
ENST00000531744.5:c.314+5942del ENSP00000456957.1:p.=
ENST00000532699.1:c.314+5942del ENSP00000456434.1:p.=
ENST00000534010.1:n.145+5942del