Canonical Allele Identifier: CA10582873

Gene: SDHD

Linked Data

• ClinVar Variation Id: 239471
• ClinVar RCV Id: RCV001021069 ; RCV002519790 ; RCV003998867
• dbSNP Id: rs878854595
• gnomAD v2: 11-111965589-G-T
• gnomAD v3: 11-112094865-G-T
• gnomAD v4: 11-112094865-G-T
• COSMIC: COSM4017851
• MyVariant Identifiers: chr11:g.111965589G>T (hg19) ; chr11:g.112094865G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094865G>T , CM000673.2:g.112094865G>T	GRCh38
NC_000011.9:g.111965589G>T , CM000673.1:g.111965589G>T	GRCh37
NC_000011.8:g.111470799G>T	NCBI36
NG_012337.2:g.13019G>T
NG_012337.3:g.13019G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*114G>T	ENSP00000432946.2:n.*114G>T
ENST00000534010.2:c.314+5854G>T	ENSP00000433202.2:n.314+5854G>T
ENST00000375549.8:c.375G>T MANE Select	ENSP00000364699.3:p.Lys125Asn
ENST00000528021.6:c.314+5854G>T	ENSP00000432465.1:n.314+5854G>T
ENST00000375549.7:c.375G>T	ENSP00000364699.3:p.Lys125Asn
ENST00000525291.5:c.258G>T	ENSP00000436669.1:p.Lys86Asn
ENST00000525987.5:n.319+5854G>T
ENST00000526592.5:c.*73G>T	ENSP00000432005.1:n.*73G>T
ENST00000528021.5:c.314+5854G>T	ENSP00000432465.1:n.314+5854G>T
ENST00000528048.5:c.230G>T	ENSP00000436217.1:p.Arg77Met
ENST00000528182.5:c.368G>T	ENSP00000435475.1:p.Arg123Met
ENST00000530923.5:c.419G>T
ENST00000531744.5:c.314+5854G>T	ENSP00000456957.1:n.314+5854G>T
ENST00000532699.1:c.314+5854G>T	ENSP00000456434.1:n.314+5854G>T
ENST00000534010.1:c.145+5854G>T
NM_001276503.1:c.230G>T	NP_001263432.1:p.Arg77Met
NM_001276504.1:c.258G>T	NP_001263433.1:p.Lys86Asn
NM_001276506.1:c.*73G>T	NP_001263435.1:n.*73G>T
NM_003002.3:c.375G>T	NP_002993.1:p.Lys125Asn
NR_077060.1:n.513G>T
NM_003002.4:c.375G>T MANE Select	NP_002993.1:p.Lys125Asn
NM_001276503.2:c.230G>T	NP_001263432.1:p.Arg77Met
NM_001276504.2:c.258G>T	NP_001263433.1:p.Lys86Asn
NM_001276506.2:c.*73G>T	NP_001263435.1:n.*73G>T
NR_077060.2:n.464G>T