Canonical Allele Identifier: CA382618810

Gene: SDHD

Linked Data

• ClinVar Variation Id: 823613
• ClinVar RCV Id: RCV001020005 ; RCV002236217
• dbSNP Id: rs1592786183
• gnomAD v4: 11-112094822-T-C
• MyVariant Identifiers: chr11:g.111965546T>C (hg19) ; chr11:g.112094822T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094822T>C , CM000673.2:g.112094822T>C	GRCh38
NC_000011.9:g.111965546T>C , CM000673.1:g.111965546T>C	GRCh37
NC_000011.8:g.111470756T>C	NCBI36
NG_012337.2:g.12976T>C
NG_012337.3:g.12976T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*71T>C	ENSP00000432946.2:n.*71T>C
ENST00000534010.2:c.314+5811T>C	ENSP00000433202.2:n.314+5811T>C
ENST00000375549.8:c.332T>C MANE Select	ENSP00000364699.3:p.Val111Ala
ENST00000528021.6:c.314+5811T>C	ENSP00000432465.1:n.314+5811T>C
ENST00000375549.7:c.332T>C	ENSP00000364699.3:p.Val111Ala
ENST00000525291.5:c.215T>C	ENSP00000436669.1:p.Val72Ala
ENST00000525987.5:n.319+5811T>C
ENST00000526592.5:c.*30T>C	ENSP00000432005.1:n.*30T>C
ENST00000528021.5:c.314+5811T>C	ENSP00000432465.1:n.314+5811T>C
ENST00000528048.5:c.187T>C	ENSP00000436217.1:p.Leu63=
ENST00000528182.5:c.325T>C	ENSP00000435475.1:p.Leu109=
ENST00000530923.5:c.376T>C
ENST00000531744.5:c.314+5811T>C	ENSP00000456957.1:n.314+5811T>C
ENST00000532699.1:c.314+5811T>C	ENSP00000456434.1:n.314+5811T>C
ENST00000534010.1:c.145+5811T>C
NM_001276503.1:c.187T>C	NP_001263432.1:p.Leu63=
NM_001276504.1:c.215T>C	NP_001263433.1:p.Val72Ala
NM_001276506.1:c.*30T>C	NP_001263435.1:n.*30T>C
NM_003002.3:c.332T>C	NP_002993.1:p.Val111Ala
NR_077060.1:n.470T>C
NM_003002.4:c.332T>C MANE Select	NP_002993.1:p.Val111Ala
NM_001276503.2:c.187T>C	NP_001263432.1:p.Leu63=
NM_001276504.2:c.215T>C	NP_001263433.1:p.Val72Ala
NM_001276506.2:c.*30T>C	NP_001263435.1:n.*30T>C
NR_077060.2:n.421T>C