Canonical Allele Identifier: CA016634

Gene: SDHD

Linked Data

• ClinVar Variation Id: 135197
• ClinVar RCV Id: RCV000122009 ; RCV000130895 ; RCV001546458 ; RCV002228625 ; RCV003398736 ; RCV003474733
• dbSNP Id: rs142135772
• ExAC: 11:111959699 A / G
• gnomAD v2: 11-111959699-A-G
• gnomAD v3: 11-112088975-A-G
• gnomAD v4: 11-112088975-A-G
• MyVariant Identifiers: chr11:g.111959699A>G (hg19) ; chr11:g.112088975A>G (hg38)
• PubMed: PMID:15331017 ; PMID:24728327 ; PMID:25376524

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088975A>G , CM000673.2:g.112088975A>G	GRCh38
NC_000011.9:g.111959699A>G , CM000673.1:g.111959699A>G	GRCh37
NC_000011.8:g.111464909A>G	NCBI36
NG_012337.2:g.7129A>G
NG_033145.1:g.2824T>C
NG_012337.3:g.7129A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.278A>G	ENSP00000432946.2:p.Tyr93Cys
ENST00000534010.2:c.278A>G	ENSP00000433202.2:p.Tyr93Cys
ENST00000375549.8:c.278A>G MANE Select	ENSP00000364699.3:p.Tyr93Cys
ENST00000528021.6:c.278A>G	ENSP00000432465.1:p.Tyr93Cys
ENST00000640554.1:c.*350A>G	ENSP00000491141.1:n.*350A>G
ENST00000375549.7:c.278A>G	ENSP00000364699.3:p.Tyr93Cys
ENST00000525291.5:c.161A>G	ENSP00000436669.1:p.Tyr54Cys
ENST00000525987.5:n.283A>G
ENST00000526592.5:c.278A>G	ENSP00000432005.1:p.Tyr93Cys
ENST00000528021.5:c.278A>G	ENSP00000432465.1:p.Tyr93Cys
ENST00000528048.5:c.169+1002A>G	ENSP00000436217.1:n.169+1002A>G
ENST00000528182.5:c.278A>G	ENSP00000435475.1:p.Tyr93Cys
ENST00000530923.5:c.268A>G
ENST00000531744.5:c.278A>G	ENSP00000456957.1:p.Tyr93Cys
ENST00000532699.1:c.278A>G	ENSP00000456434.1:p.Tyr93Cys
ENST00000534010.1:c.109A>G
ENST00000614349.4:c.278A>G	ENSP00000480666.1:p.Tyr93Cys
NM_001276503.1:c.169+1002A>G	NP_001263432.1:n.169+1002A>G
NM_001276504.1:c.161A>G	NP_001263433.1:p.Tyr54Cys
NM_001276506.1:c.278A>G	NP_001263435.1:p.Tyr93Cys
NM_003002.3:c.278A>G	NP_002993.1:p.Tyr93Cys
NR_077060.1:n.362A>G
NM_003002.4:c.278A>G MANE Select	NP_002993.1:p.Tyr93Cys
NM_001276503.2:c.169+1002A>G	NP_001263432.1:n.169+1002A>G
NM_001276504.2:c.161A>G	NP_001263433.1:p.Tyr54Cys
NM_001276506.2:c.278A>G	NP_001263435.1:p.Tyr93Cys
NR_077060.2:n.313A>G