Canonical Allele Identifier: CA16613252

Gene: SDHD

Linked Data

• ClinVar Variation Id: 412498
• ClinVar RCV Id: RCV000492697 ; RCV002230658
• dbSNP Id: rs1060503770
• MyVariant Identifiers: chr11:g.111965539C>T (hg19) ; chr11:g.112094815C>T (hg38)
• PubMed: PMID:11897817 ; PMID:16061558 ; PMID:17308434 ; PMID:18463041 ; PMID:19223516 ; PMID:22241717 ; PMID:26273102

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094815C>T , CM000673.2:g.112094815C>T	GRCh38
NC_000011.9:g.111965539C>T , CM000673.1:g.111965539C>T	GRCh37
NC_000011.8:g.111470749C>T	NCBI36
NG_012337.2:g.12969C>T
NG_012337.3:g.12969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*64C>T	ENSP00000432946.2:n.*64C>T
ENST00000534010.2:c.314+5804C>T	ENSP00000433202.2:n.314+5804C>T
ENST00000375549.8:c.325C>T MANE Select	ENSP00000364699.3:p.Gln109Ter
ENST00000528021.6:c.314+5804C>T	ENSP00000432465.1:n.314+5804C>T
ENST00000375549.7:c.325C>T	ENSP00000364699.3:p.Gln109Ter
ENST00000525291.5:c.208C>T	ENSP00000436669.1:p.Gln70Ter
ENST00000525987.5:n.319+5804C>T
ENST00000526592.5:c.*23C>T	ENSP00000432005.1:n.*23C>T
ENST00000528021.5:c.314+5804C>T	ENSP00000432465.1:n.314+5804C>T
ENST00000528048.5:c.180C>T	ENSP00000436217.1:p.Asp60=
ENST00000528182.5:c.318C>T	ENSP00000435475.1:p.Asp106=
ENST00000530923.5:c.369C>T
ENST00000531744.5:c.314+5804C>T	ENSP00000456957.1:n.314+5804C>T
ENST00000532699.1:c.314+5804C>T	ENSP00000456434.1:n.314+5804C>T
ENST00000534010.1:c.145+5804C>T
NM_001276503.1:c.180C>T	NP_001263432.1:p.Asp60=
NM_001276504.1:c.208C>T	NP_001263433.1:p.Gln70Ter
NM_001276506.1:c.*23C>T	NP_001263435.1:n.*23C>T
NM_003002.3:c.325C>T	NP_002993.1:p.Gln109Ter
NR_077060.1:n.463C>T
NM_003002.4:c.325C>T MANE Select	NP_002993.1:p.Gln109Ter
NM_001276503.2:c.180C>T	NP_001263432.1:p.Asp60=
NM_001276504.2:c.208C>T	NP_001263433.1:p.Gln70Ter
NM_001276506.2:c.*23C>T	NP_001263435.1:n.*23C>T
NR_077060.2:n.414C>T