Canonical Allele Identifier: CA016681

Gene: SDHD

Linked Data

• ClinVar Variation Id: 156153
• ClinVar RCV Id: RCV000144171 ; RCV000484125 ; RCV001290090 ; RCV002415627 ; RCV002515941
• dbSNP Id: rs202198133
• gnomAD v2: 11-111959626-G-A
• gnomAD v4: 11-112088902-G-A
• COSMIC: COSM923089
• MyVariant Identifiers: chr11:g.111959626G>A (hg19) ; chr11:g.112088902G>A (hg38)
• PubMed: PMID:24367056

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088902G>A , CM000673.2:g.112088902G>A	GRCh38
NC_000011.9:g.111959626G>A , CM000673.1:g.111959626G>A	GRCh37
NC_000011.8:g.111464836G>A	NCBI36
NG_012337.2:g.7056G>A
NG_033145.1:g.2897C>T
NG_012337.3:g.7056G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.205G>A	ENSP00000432946.2:p.Glu69Lys
ENST00000534010.2:c.205G>A	ENSP00000433202.2:p.Glu69Lys
ENST00000375549.8:c.205G>A MANE Select	ENSP00000364699.3:p.Glu69Lys
ENST00000528021.6:c.205G>A	ENSP00000432465.1:p.Glu69Lys
ENST00000640554.1:c.*277G>A	ENSP00000491141.1:n.*277G>A
ENST00000375549.7:c.205G>A	ENSP00000364699.3:p.Glu69Lys
ENST00000525291.5:c.88G>A	ENSP00000436669.1:p.Glu30Lys
ENST00000525987.5:n.210G>A
ENST00000526592.5:c.205G>A	ENSP00000432005.1:p.Glu69Lys
ENST00000528021.5:c.205G>A	ENSP00000432465.1:p.Glu69Lys
ENST00000528048.5:c.169+929G>A	ENSP00000436217.1:n.169+929G>A
ENST00000528182.5:c.205G>A	ENSP00000435475.1:p.Glu69Lys
ENST00000530923.5:c.195G>A
ENST00000531744.5:c.205G>A	ENSP00000456957.1:p.Glu69Lys
ENST00000532699.1:c.205G>A	ENSP00000456434.1:p.Glu69Lys
ENST00000534010.1:c.36G>A
ENST00000614349.4:c.205G>A	ENSP00000480666.1:p.Glu69Lys
NM_001276503.1:c.169+929G>A	NP_001263432.1:n.169+929G>A
NM_001276504.1:c.88G>A	NP_001263433.1:p.Glu30Lys
NM_001276506.1:c.205G>A	NP_001263435.1:p.Glu69Lys
NM_003002.3:c.205G>A	NP_002993.1:p.Glu69Lys
NR_077060.1:n.289G>A
NM_003002.4:c.205G>A MANE Select	NP_002993.1:p.Glu69Lys
NM_001276503.2:c.169+929G>A	NP_001263432.1:n.169+929G>A
NM_001276504.2:c.88G>A	NP_001263433.1:p.Glu30Lys
NM_001276506.2:c.205G>A	NP_001263435.1:p.Glu69Lys
NR_077060.2:n.240G>A