Canonical Allele Identifier: CA645369586

Gene: SDHD

Linked Data

• ClinVar Variation Id: 428937
• ClinVar RCV Id: RCV000492485
• dbSNP Id: rs1131691063
• MyVariant Identifiers: chr11:g.111965602dup (hg19) ; chr11:g.112094878dup (hg38)
• PubMed: PMID:17848412 ; PMID:20208144

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094878dup , CM000673.2:g.112094878dup	GRCh38
NC_000011.9:g.111965602dup , CM000673.1:g.111965602dup	GRCh37
NC_000011.8:g.111470812dup	NCBI36
NG_012337.2:g.13032dup
NG_012337.3:g.13032dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*127dup	ENSP00000432946.2:n.*127dup
ENST00000534010.2:c.314+5867dup	ENSP00000433202.2:n.314+5867dup
ENST00000375549.8:c.388dup MANE Select	ENSP00000364699.3:p.Ala130GlyfsTer?
ENST00000528021.6:c.314+5867dup	ENSP00000432465.1:n.314+5867dup
ENST00000375549.7:c.388dup	ENSP00000364699.3:p.Ala130GlyfsTer?
ENST00000525291.5:c.271dup	ENSP00000436669.1:p.Ala91GlyfsTer?
ENST00000525987.5:n.319+5867dup
ENST00000526592.5:c.*86dup	ENSP00000432005.1:n.*86dup
ENST00000528021.5:c.314+5867dup	ENSP00000432465.1:n.314+5867dup
ENST00000528048.5:c.243dup	ENSP00000436217.1:p.His82AlafsTer?
ENST00000528182.5:c.381dup	ENSP00000435475.1:p.His128AlafsTer?
ENST00000530923.5:c.432dup
ENST00000531744.5:c.314+5867dup	ENSP00000456957.1:n.314+5867dup
ENST00000532699.1:c.314+5867dup	ENSP00000456434.1:n.314+5867dup
ENST00000534010.1:c.145+5867dup
NM_001276503.1:c.243dup	NP_001263432.1:p.His82AlafsTer?
NM_001276504.1:c.271dup	NP_001263433.1:p.Ala91GlyfsTer?
NM_001276506.1:c.*86dup	NP_001263435.1:n.*86dup
NM_003002.3:c.388dup	NP_002993.1:p.Ala130GlyfsTer?
NR_077060.1:n.526dup
NM_003002.4:c.388dup MANE Select	NP_002993.1:p.Ala130GlyfsTer?
NM_001276503.2:c.243dup	NP_001263432.1:p.His82AlafsTer?
NM_001276504.2:c.271dup	NP_001263433.1:p.Ala91GlyfsTer?
NM_001276506.2:c.*86dup	NP_001263435.1:n.*86dup
NR_077060.2:n.477dup