Canonical Allele Identifier: CA382617436

Gene: SDHD

Linked Data

• ClinVar Variation Id: 428939
• ClinVar RCV Id: RCV000492092 ; RCV002291278 ; RCV002527068
• dbSNP Id: rs1131691065
• gnomAD v4: 11-112089011-G-A
• MyVariant Identifiers: chr11:g.111959735G>A (hg19) ; chr11:g.112089011G>A (hg38)
• PubMed: PMID:23512077

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112089011G>A , CM000673.2:g.112089011G>A	GRCh38
NC_000011.9:g.111959735G>A , CM000673.1:g.111959735G>A	GRCh37
NC_000011.8:g.111464945G>A	NCBI36
NG_012337.2:g.7165G>A
NG_033145.1:g.2788C>T
NG_012337.3:g.7165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.314G>A	ENSP00000432946.2:p.Ter105=
ENST00000534010.2:c.314G>A	ENSP00000433202.2:p.Trp105Ter
ENST00000375549.8:c.314G>A MANE Select	ENSP00000364699.3:p.Trp105Ter
ENST00000528021.6:c.314G>A	ENSP00000432465.1:p.Ter105=
ENST00000640554.1:c.*386G>A	ENSP00000491141.1:n.*386G>A
ENST00000375549.7:c.314G>A	ENSP00000364699.3:p.Trp105Ter
ENST00000525291.5:c.197G>A	ENSP00000436669.1:p.Trp66Ter
ENST00000525987.5:n.319G>A
ENST00000526592.5:c.314G>A	ENSP00000432005.1:p.Trp105Ter
ENST00000528021.5:c.314G>A	ENSP00000432465.1:p.Ter105=
ENST00000528048.5:c.169+1038G>A	ENSP00000436217.1:n.169+1038G>A
ENST00000528182.5:c.307+7G>A	ENSP00000435475.1:n.307+7G>A
ENST00000530923.5:c.304G>A
ENST00000531744.5:c.314G>A	ENSP00000456957.1:p.Cys105Tyr
ENST00000532699.1:c.314G>A	ENSP00000456434.1:p.Cys105Tyr
ENST00000534010.1:c.145G>A
ENST00000614349.4:c.314G>A	ENSP00000480666.1:p.Trp105Ter
NM_001276503.1:c.169+1038G>A	NP_001263432.1:n.169+1038G>A
NM_001276504.1:c.197G>A	NP_001263433.1:p.Trp66Ter
NM_001276506.1:c.314G>A	NP_001263435.1:p.Trp105Ter
NM_003002.3:c.314G>A	NP_002993.1:p.Trp105Ter
NR_077060.1:n.398G>A
NM_003002.4:c.314G>A MANE Select	NP_002993.1:p.Trp105Ter
NM_001276503.2:c.169+1038G>A	NP_001263432.1:n.169+1038G>A
NM_001276504.2:c.197G>A	NP_001263433.1:p.Trp66Ter
NM_001276506.2:c.314G>A	NP_001263435.1:p.Trp105Ter
NR_077060.2:n.349G>A