Canonical Allele Identifier: CA016628
Gene: SDHD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6905
ClinVar RCV Id: RCV000007314
dbSNP Id: rs121908983

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088975_112088977del , CM000673.2:g.112088975_112088977del GRCh38
NC_000011.9:g.111959699_111959701del , CM000673.1:g.111959699_111959701del GRCh37
NC_000011.8:g.111464909_111464911del NCBI36
NG_012337.2:g.7129_7131del
NG_033145.1:g.2823_2825del
NG_012337.3:g.7129_7131del

Transcript Alleles

HGVS Amino-acid change
NM_001276503.1:c.169+1002_169+1004del VV NP_001263432.1:p.=
NM_001276504.1:c.161_163del VV NP_001263433.1:p.Tyr54del
NM_001276506.1:c.278_280del VV NP_001263435.1:p.Tyr93del
NM_003002.3:c.278_280del VV NP_002993.1:p.Tyr93del
NR_077060.1:n.362_364del
NM_003002.4:c.278_280del VV MANE Preferred
ENST00000375549.7:c.278_280del ENSP00000364699.3:p.Tyr93del
ENST00000525291.5:c.161_163del ENSP00000436669.1:p.Tyr54del
ENST00000525987.5:n.283_285del
ENST00000526592.5:c.278_280del ENSP00000432005.1:p.Tyr93del
ENST00000528021.5:c.278_280del ENSP00000432465.1:p.Tyr93del
ENST00000528048.5:c.169+1002_169+1004del ENSP00000436217.1:p.=
ENST00000528182.5:c.278_280del ENSP00000435475.1:p.Tyr93del
ENST00000530923.5:n.268_270del
ENST00000531744.5:c.278_280del ENSP00000456957.1:p.Tyr93del
ENST00000532699.1:c.278_280del ENSP00000456434.1:p.Tyr93del
ENST00000534010.1:n.109_111del
ENST00000614349.4:c.278_280del ENSP00000480666.1:p.Tyr93del