Canonical Allele Identifier: CA016967

Gene: SDHD

Linked Data

• ClinVar Variation Id: 6915
• ClinVar RCV Id: RCV000007324 ; RCV000221327
• dbSNP Id: rs104894309
• MyVariant Identifiers: chr11:g.111957664C>A (hg19) ; chr11:g.112086940C>A (hg38)
• PubMed: PMID:12000816 ; PMID:18826997 ; PMID:25791839 ; PMID:27785149

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086940C>A , CM000673.2:g.112086940C>A	GRCh38
NC_000011.9:g.111957664C>A , CM000673.1:g.111957664C>A	GRCh37
NC_000011.8:g.111462874C>A	NCBI36
NG_012337.2:g.5094C>A
NG_033145.1:g.4859G>T
NG_012337.3:g.5094C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.33C>A	ENSP00000432946.2:p.Cys11Ter
ENST00000534010.2:c.33C>A	ENSP00000433202.2:p.Cys11Ter
ENST00000375549.8:c.33C>A MANE Select	ENSP00000364699.3:p.Cys11Ter
ENST00000528021.6:c.33C>A	ENSP00000432465.1:p.Cys11Ter
ENST00000640554.1:c.33C>A	ENSP00000491141.1:p.Cys11Ter
ENST00000375549.7:c.33C>A	ENSP00000364699.3:p.Cys11Ter
ENST00000525291.5:c.33C>A	ENSP00000436669.1:p.Cys11Ter
ENST00000525987.5:n.38C>A
ENST00000526592.5:c.33C>A	ENSP00000432005.1:p.Cys11Ter
ENST00000528021.5:c.33C>A	ENSP00000432465.1:p.Cys11Ter
ENST00000528048.5:c.33C>A	ENSP00000436217.1:p.Cys11Ter
ENST00000528182.5:c.33C>A	ENSP00000435475.1:p.Cys11Ter
ENST00000530923.5:c.23C>A
ENST00000531744.5:c.33C>A	ENSP00000456957.1:p.Cys11Ter
ENST00000532699.1:c.33C>A	ENSP00000456434.1:p.Cys11Ter
ENST00000614349.4:c.33C>A	ENSP00000480666.1:p.Cys11Ter
NM_001276503.1:c.33C>A	NP_001263432.1:p.Cys11Ter
NM_001276504.1:c.33C>A	NP_001263433.1:p.Cys11Ter
NM_001276506.1:c.33C>A	NP_001263435.1:p.Cys11Ter
NM_003002.3:c.33C>A	NP_002993.1:p.Cys11Ter
NR_077060.1:n.117C>A
NM_003002.4:c.33C>A MANE Select	NP_002993.1:p.Cys11Ter
NM_001276503.2:c.33C>A	NP_001263432.1:p.Cys11Ter
NM_001276504.2:c.33C>A	NP_001263433.1:p.Cys11Ter
NM_001276506.2:c.33C>A	NP_001263435.1:p.Cys11Ter
NR_077060.2:n.68C>A