Canonical Allele Identifier: CA071406

Gene: SDHD

Linked Data

• ClinVar Variation Id: 465239
• ClinVar RCV Id: RCV001022352 ; RCV002232278 ; RCV003326457 ; RCV003999155
• dbSNP Id: rs200062830
• ExAC: 11:111965649 C / T
• gnomAD v2: 11-111965649-C-T
• gnomAD v3: 11-112094925-C-T
• gnomAD v4: 11-112094925-C-T
• MyVariant Identifiers: chr11:g.111965649C>T (hg19) ; chr11:g.112094925C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094925C>T , CM000673.2:g.112094925C>T	GRCh38
NC_000011.9:g.111965649C>T , CM000673.1:g.111965649C>T	GRCh37
NC_000011.8:g.111470859C>T	NCBI36
NG_012337.2:g.13079C>T
NG_012337.3:g.13079C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*174C>T	ENSP00000432946.2:n.*174C>T
ENST00000534010.2:c.314+5914C>T	ENSP00000433202.2:n.314+5914C>T
ENST00000375549.8:c.435C>T MANE Select	ENSP00000364699.3:p.His145=
ENST00000528021.6:c.314+5914C>T	ENSP00000432465.1:n.314+5914C>T
ENST00000375549.7:c.435C>T	ENSP00000364699.3:p.His145=
ENST00000525291.5:c.318C>T	ENSP00000436669.1:p.His106=
ENST00000525987.5:n.319+5914C>T
ENST00000526592.5:c.*133C>T	ENSP00000432005.1:n.*133C>T
ENST00000528021.5:c.314+5914C>T	ENSP00000432465.1:n.314+5914C>T
ENST00000528048.5:c.*32C>T	ENSP00000436217.1:n.*32C>T
ENST00000528182.5:c.*32C>T	ENSP00000435475.1:n.*32C>T
ENST00000530923.5:c.479C>T
ENST00000531744.5:c.314+5914C>T	ENSP00000456957.1:n.314+5914C>T
ENST00000532699.1:c.314+5914C>T	ENSP00000456434.1:n.314+5914C>T
ENST00000534010.1:c.145+5914C>T
NM_001276503.1:c.*32C>T	NP_001263432.1:n.*32C>T
NM_001276504.1:c.318C>T	NP_001263433.1:p.His106=
NM_001276506.1:c.*133C>T	NP_001263435.1:n.*133C>T
NM_003002.3:c.435C>T	NP_002993.1:p.His145=
NR_077060.1:n.573C>T
NM_003002.4:c.435C>T MANE Select	NP_002993.1:p.His145=
NM_001276503.2:c.*32C>T	NP_001263432.1:n.*32C>T
NM_001276504.2:c.318C>T	NP_001263433.1:p.His106=
NM_001276506.2:c.*133C>T	NP_001263435.1:n.*133C>T
NR_077060.2:n.524C>T