Canonical Allele Identifier: CA071312

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1734053
• ClinVar RCV Id: RCV002353010
• dbSNP Id: rs747779190
• ExAC: 11:111965583 T / G
• gnomAD v3: 11-112094859-T-G
• gnomAD v4: 11-112094859-T-G
• MyVariant Identifiers: chr11:g.111965583T>G (hg19) ; chr11:g.112094859T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094859T>G , CM000673.2:g.112094859T>G	GRCh38
NC_000011.9:g.111965583T>G , CM000673.1:g.111965583T>G	GRCh37
NC_000011.8:g.111470793T>G	NCBI36
NG_012337.2:g.13013T>G
NG_012337.3:g.13013T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*108T>G	ENSP00000432946.2:n.*108T>G
ENST00000534010.2:c.314+5848T>G	ENSP00000433202.2:n.314+5848T>G
ENST00000375549.8:c.369T>G MANE Select	ENSP00000364699.3:p.Ala123=
ENST00000528021.6:c.314+5848T>G	ENSP00000432465.1:n.314+5848T>G
ENST00000375549.7:c.369T>G	ENSP00000364699.3:p.Ala123=
ENST00000525291.5:c.252T>G	ENSP00000436669.1:p.Ala84=
ENST00000525987.5:n.319+5848T>G
ENST00000526592.5:c.*67T>G	ENSP00000432005.1:n.*67T>G
ENST00000528021.5:c.314+5848T>G	ENSP00000432465.1:n.314+5848T>G
ENST00000528048.5:c.224T>G	ENSP00000436217.1:p.Leu75Arg
ENST00000528182.5:c.362T>G	ENSP00000435475.1:p.Leu121Arg
ENST00000530923.5:c.413T>G
ENST00000531744.5:c.314+5848T>G	ENSP00000456957.1:n.314+5848T>G
ENST00000532699.1:c.314+5848T>G	ENSP00000456434.1:n.314+5848T>G
ENST00000534010.1:c.145+5848T>G
NM_001276503.1:c.224T>G	NP_001263432.1:p.Leu75Arg
NM_001276504.1:c.252T>G	NP_001263433.1:p.Ala84=
NM_001276506.1:c.*67T>G	NP_001263435.1:n.*67T>G
NM_003002.3:c.369T>G	NP_002993.1:p.Ala123=
NR_077060.1:n.507T>G
NM_003002.4:c.369T>G MANE Select	NP_002993.1:p.Ala123=
NM_001276503.2:c.224T>G	NP_001263432.1:p.Leu75Arg
NM_001276504.2:c.252T>G	NP_001263433.1:p.Ala84=
NM_001276506.2:c.*67T>G	NP_001263435.1:n.*67T>G
NR_077060.2:n.458T>G