Canonical Allele Identifier: CA601745966

Gene: SDHD

Linked Data

• ClinVar Variation Id: 2033300
• ClinVar RCV Id: RCV002872270
• dbSNP Id: rs1393446652
• gnomAD v2: 11-111965513-T-G
• gnomAD v4: 11-112094789-T-G
• MyVariant Identifiers: chr11:g.111965513T>G (hg19) ; chr11:g.112094789T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094789T>G , CM000673.2:g.112094789T>G	GRCh38
NC_000011.9:g.111965513T>G , CM000673.1:g.111965513T>G	GRCh37
NC_000011.8:g.111470723T>G	NCBI36
NG_012337.2:g.12943T>G
NG_012337.3:g.12943T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*54-16T>G	ENSP00000432946.2:n.*54-16T>G
ENST00000534010.2:c.314+5778T>G	ENSP00000433202.2:n.314+5778T>G
ENST00000375549.8:c.315-16T>G MANE Select	ENSP00000364699.3:n.315-16T>G
ENST00000528021.6:c.314+5778T>G	ENSP00000432465.1:n.314+5778T>G
ENST00000375549.7:c.315-16T>G	ENSP00000364699.3:n.315-16T>G
ENST00000525291.5:c.198-16T>G	ENSP00000436669.1:n.198-16T>G
ENST00000525987.5:n.319+5778T>G
ENST00000526592.5:c.*13-16T>G	ENSP00000432005.1:n.*13-16T>G
ENST00000528021.5:c.314+5778T>G	ENSP00000432465.1:n.314+5778T>G
ENST00000528048.5:c.170-16T>G	ENSP00000436217.1:n.170-16T>G
ENST00000528182.5:c.308-16T>G	ENSP00000435475.1:n.308-16T>G
ENST00000530923.5:c.359-16T>G
ENST00000531744.5:c.314+5778T>G	ENSP00000456957.1:n.314+5778T>G
ENST00000532699.1:c.314+5778T>G	ENSP00000456434.1:n.314+5778T>G
ENST00000534010.1:c.145+5778T>G
NM_001276503.1:c.170-16T>G	NP_001263432.1:n.170-16T>G
NM_001276504.1:c.198-16T>G	NP_001263433.1:n.198-16T>G
NM_001276506.1:c.*13-16T>G	NP_001263435.1:n.*13-16T>G
NM_003002.3:c.315-16T>G	NP_002993.1:n.315-16T>G
NR_077060.1:n.453-16T>G
NM_003002.4:c.315-16T>G MANE Select	NP_002993.1:n.315-16T>G
NM_001276503.2:c.170-16T>G	NP_001263432.1:n.170-16T>G
NM_001276504.2:c.198-16T>G	NP_001263433.1:n.198-16T>G
NM_001276506.2:c.*13-16T>G	NP_001263435.1:n.*13-16T>G
NR_077060.2:n.404-16T>G