Canonical Allele Identifier: CA016987

Gene: SDHD

Linked Data

• ClinVar Variation Id: 6906
• ClinVar RCV Id: RCV000007315 ; RCV000020522 ; RCV000492533 ; RCV002228007
• dbSNP Id: rs80338842
• gnomAD v4: 11-112086910-G-C
• MyVariant Identifiers: chr11:g.111957634G>C (hg19) ; chr11:g.112086910G>C (hg38)
• PubMed: PMID:11391796 ; PMID:12782822 ; PMID:17406045 ; PMID:20301715 ; PMID:21792967 ; PMID:21945342

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086910G>C , CM000673.2:g.112086910G>C	GRCh38
NC_000011.9:g.111957634G>C , CM000673.1:g.111957634G>C	GRCh37
NC_000011.8:g.111462844G>C	NCBI36
NG_012337.2:g.5064G>C
NG_033145.1:g.4889C>G
NG_012337.3:g.5064G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.3G>C	ENSP00000432946.2:p.Met1Ile
ENST00000534010.2:c.3G>C	ENSP00000433202.2:p.Met1Ile
ENST00000375549.8:c.3G>C MANE Select	ENSP00000364699.3:p.Met1Ile
ENST00000528021.6:c.3G>C	ENSP00000432465.1:p.Met1Ile
ENST00000640554.1:c.3G>C	ENSP00000491141.1:p.Met1Ile
ENST00000375549.7:c.3G>C	ENSP00000364699.3:p.Met1Ile
ENST00000525291.5:c.3G>C	ENSP00000436669.1:p.Met1Ile
ENST00000525987.5:n.8G>C
ENST00000526592.5:c.3G>C	ENSP00000432005.1:p.Met1Ile
ENST00000528021.5:c.3G>C	ENSP00000432465.1:p.Met1Ile
ENST00000528048.5:c.3G>C	ENSP00000436217.1:p.Met1Ile
ENST00000528182.5:c.3G>C	ENSP00000435475.1:p.Met1Ile
ENST00000531744.5:c.3G>C	ENSP00000456957.1:p.Met1Ile
ENST00000532699.1:c.3G>C	ENSP00000456434.1:p.Met1Ile
ENST00000614349.4:c.3G>C	ENSP00000480666.1:p.Met1Ile
NM_001276503.1:c.3G>C	NP_001263432.1:p.Met1Ile
NM_001276504.1:c.3G>C	NP_001263433.1:p.Met1Ile
NM_001276506.1:c.3G>C	NP_001263435.1:p.Met1Ile
NM_003002.3:c.3G>C	NP_002993.1:p.Met1Ile
NR_077060.1:n.87G>C
NM_003002.4:c.3G>C MANE Select	NP_002993.1:p.Met1Ile
NM_001276503.2:c.3G>C	NP_001263432.1:p.Met1Ile
NM_001276504.2:c.3G>C	NP_001263433.1:p.Met1Ile
NM_001276506.2:c.3G>C	NP_001263435.1:p.Met1Ile
NR_077060.2:n.38G>C