Canonical Allele Identifier: CA16613228

Gene: SDHD

Linked Data

• ClinVar Variation Id: 412500
• ClinVar RCV Id: RCV002230659 ; RCV002323760 ; RCV003476140
• dbSNP Id: rs1060503771
• gnomAD v3: 11-112094818-G-A
• gnomAD v4: 11-112094818-G-A
• MyVariant Identifiers: chr11:g.111965542G>A (hg19) ; chr11:g.112094818G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094818G>A , CM000673.2:g.112094818G>A	GRCh38
NC_000011.9:g.111965542G>A , CM000673.1:g.111965542G>A	GRCh37
NC_000011.8:g.111470752G>A	NCBI36
NG_012337.2:g.12972G>A
NG_012337.3:g.12972G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*67G>A	ENSP00000432946.2:n.*67G>A
ENST00000534010.2:c.314+5807G>A	ENSP00000433202.2:n.314+5807G>A
ENST00000375549.8:c.328G>A MANE Select	ENSP00000364699.3:p.Val110Ile
ENST00000528021.6:c.314+5807G>A	ENSP00000432465.1:n.314+5807G>A
ENST00000375549.7:c.328G>A	ENSP00000364699.3:p.Val110Ile
ENST00000525291.5:c.211G>A	ENSP00000436669.1:p.Val71Ile
ENST00000525987.5:n.319+5807G>A
ENST00000526592.5:c.*26G>A	ENSP00000432005.1:n.*26G>A
ENST00000528021.5:c.314+5807G>A	ENSP00000432465.1:n.314+5807G>A
ENST00000528048.5:c.183G>A	ENSP00000436217.1:p.Lys61=
ENST00000528182.5:c.321G>A	ENSP00000435475.1:p.Lys107=
ENST00000530923.5:c.372G>A
ENST00000531744.5:c.314+5807G>A	ENSP00000456957.1:n.314+5807G>A
ENST00000532699.1:c.314+5807G>A	ENSP00000456434.1:n.314+5807G>A
ENST00000534010.1:c.145+5807G>A
NM_001276503.1:c.183G>A	NP_001263432.1:p.Lys61=
NM_001276504.1:c.211G>A	NP_001263433.1:p.Val71Ile
NM_001276506.1:c.*26G>A	NP_001263435.1:n.*26G>A
NM_003002.3:c.328G>A	NP_002993.1:p.Val110Ile
NR_077060.1:n.466G>A
NM_003002.4:c.328G>A MANE Select	NP_002993.1:p.Val110Ile
NM_001276503.2:c.183G>A	NP_001263432.1:p.Lys61=
NM_001276504.2:c.211G>A	NP_001263433.1:p.Val71Ile
NM_001276506.2:c.*26G>A	NP_001263435.1:n.*26G>A
NR_077060.2:n.417G>A