Canonical Allele Identifier: CA382619046

Gene: SDHD

Linked Data

• ClinVar Variation Id: 662467
• ClinVar RCV Id: RCV002345889 ; RCV002235395
• dbSNP Id: rs1592786256
• gnomAD v4: 11-112094864-A-G
• MyVariant Identifiers: chr11:g.111965588A>G (hg19) ; chr11:g.112094864A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094864A>G , CM000673.2:g.112094864A>G	GRCh38
NC_000011.9:g.111965588A>G , CM000673.1:g.111965588A>G	GRCh37
NC_000011.8:g.111470798A>G	NCBI36
NG_012337.2:g.13018A>G
NG_012337.3:g.13018A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*113A>G	ENSP00000432946.2:n.*113A>G
ENST00000534010.2:c.314+5853A>G	ENSP00000433202.2:n.314+5853A>G
ENST00000375549.8:c.374A>G MANE Select	ENSP00000364699.3:p.Lys125Arg
ENST00000528021.6:c.314+5853A>G	ENSP00000432465.1:n.314+5853A>G
ENST00000375549.7:c.374A>G	ENSP00000364699.3:p.Lys125Arg
ENST00000525291.5:c.257A>G	ENSP00000436669.1:p.Lys86Arg
ENST00000525987.5:n.319+5853A>G
ENST00000526592.5:c.*72A>G	ENSP00000432005.1:n.*72A>G
ENST00000528021.5:c.314+5853A>G	ENSP00000432465.1:n.314+5853A>G
ENST00000528048.5:c.229A>G	ENSP00000436217.1:p.Arg77Gly
ENST00000528182.5:c.367A>G	ENSP00000435475.1:p.Arg123Gly
ENST00000530923.5:c.418A>G
ENST00000531744.5:c.314+5853A>G	ENSP00000456957.1:n.314+5853A>G
ENST00000532699.1:c.314+5853A>G	ENSP00000456434.1:n.314+5853A>G
ENST00000534010.1:c.145+5853A>G
NM_001276503.1:c.229A>G	NP_001263432.1:p.Arg77Gly
NM_001276504.1:c.257A>G	NP_001263433.1:p.Lys86Arg
NM_001276506.1:c.*72A>G	NP_001263435.1:n.*72A>G
NM_003002.3:c.374A>G	NP_002993.1:p.Lys125Arg
NR_077060.1:n.512A>G
NM_003002.4:c.374A>G MANE Select	NP_002993.1:p.Lys125Arg
NM_001276503.2:c.229A>G	NP_001263432.1:p.Arg77Gly
NM_001276504.2:c.257A>G	NP_001263433.1:p.Lys86Arg
NM_001276506.2:c.*72A>G	NP_001263435.1:n.*72A>G
NR_077060.2:n.463A>G