Canonical Allele Identifier: CA382617089

Gene: SDHD

Linked Data

• ClinVar Variation Id: 431847
• ClinVar RCV Id: RCV000497964 ; RCV000569506 ; RCV000505346 ; RCV002230973
• dbSNP Id: rs779249550
• gnomAD v2: 11-111958676-C-G
• MyVariant Identifiers: chr11:g.111958676C>G (hg19) ; chr11:g.112087952C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112087952C>G , CM000673.2:g.112087952C>G	GRCh38
NC_000011.9:g.111958676C>G , CM000673.1:g.111958676C>G	GRCh37
NC_000011.8:g.111463886C>G	NCBI36
NG_012337.2:g.6106C>G
NG_033145.1:g.3847G>C
NG_012337.3:g.6106C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.148C>G	ENSP00000432946.2:p.His50Asp
ENST00000534010.2:c.148C>G	ENSP00000433202.2:p.His50Asp
ENST00000375549.8:c.148C>G MANE Select	ENSP00000364699.3:p.His50Asp
ENST00000528021.6:c.148C>G	ENSP00000432465.1:p.His50Asp
ENST00000640554.1:c.148C>G	ENSP00000491141.1:p.His50Asp
ENST00000375549.7:c.148C>G	ENSP00000364699.3:p.His50Asp
ENST00000525291.5:c.53-915C>G	ENSP00000436669.1:n.53-915C>G
ENST00000525987.5:n.153C>G
ENST00000526592.5:c.148C>G	ENSP00000432005.1:p.His50Asp
ENST00000528021.5:c.148C>G	ENSP00000432465.1:p.His50Asp
ENST00000528048.5:c.148C>G	ENSP00000436217.1:p.His50Asp
ENST00000528182.5:c.148C>G	ENSP00000435475.1:p.His50Asp
ENST00000530923.5:c.138C>G
ENST00000531744.5:c.148C>G	ENSP00000456957.1:p.His50Asp
ENST00000532699.1:c.148C>G	ENSP00000456434.1:p.His50Asp
ENST00000614349.4:c.148C>G	ENSP00000480666.1:p.His50Asp
NM_001276503.1:c.148C>G	NP_001263432.1:p.His50Asp
NM_001276504.1:c.53-915C>G	NP_001263433.1:n.53-915C>G
NM_001276506.1:c.148C>G	NP_001263435.1:p.His50Asp
NM_003002.3:c.148C>G	NP_002993.1:p.His50Asp
NR_077060.1:n.232C>G
NM_003002.4:c.148C>G MANE Select	NP_002993.1:p.His50Asp
NM_001276503.2:c.148C>G	NP_001263432.1:p.His50Asp
NM_001276504.2:c.53-915C>G	NP_001263433.1:n.53-915C>G
NM_001276506.2:c.148C>G	NP_001263435.1:p.His50Asp
NR_077060.2:n.183C>G