Canonical Allele Identifier: CA016642

Gene: SDHD

Linked Data

• ClinVar Variation Id: 184557
• ClinVar RCV Id: RCV000163830 ; RCV000641053
• dbSNP Id: rs781182616
• ExAC: 11:111959703 C / G
• gnomAD v2: 11-111959703-C-G
• gnomAD v3: 11-112088979-C-G
• gnomAD v4: 11-112088979-C-G
• MyVariant Identifiers: chr11:g.111959703C>G (hg19) ; chr11:g.112088979C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088979C>G , CM000673.2:g.112088979C>G	GRCh38
NC_000011.9:g.111959703C>G , CM000673.1:g.111959703C>G	GRCh37
NC_000011.8:g.111464913C>G	NCBI36
NG_012337.2:g.7133C>G
NG_033145.1:g.2820G>C
NG_012337.3:g.7133C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.282C>G	ENSP00000432946.2:p.Ser94=
ENST00000534010.2:c.282C>G	ENSP00000433202.2:p.Ser94=
ENST00000375549.8:c.282C>G MANE Select	ENSP00000364699.3:p.Ser94=
ENST00000528021.6:c.282C>G	ENSP00000432465.1:p.Ser94=
ENST00000640554.1:c.*354C>G	ENSP00000491141.1:n.*354C>G
ENST00000375549.7:c.282C>G	ENSP00000364699.3:p.Ser94=
ENST00000525291.5:c.165C>G	ENSP00000436669.1:p.Ser55=
ENST00000525987.5:n.287C>G
ENST00000526592.5:c.282C>G	ENSP00000432005.1:p.Ser94=
ENST00000528021.5:c.282C>G	ENSP00000432465.1:p.Ser94=
ENST00000528048.5:c.169+1006C>G	ENSP00000436217.1:n.169+1006C>G
ENST00000528182.5:c.282C>G	ENSP00000435475.1:p.Ser94=
ENST00000530923.5:c.272C>G
ENST00000531744.5:c.282C>G	ENSP00000456957.1:p.Ser94=
ENST00000532699.1:c.282C>G	ENSP00000456434.1:p.Ser94=
ENST00000534010.1:c.113C>G
ENST00000614349.4:c.282C>G	ENSP00000480666.1:p.Ser94=
NM_001276503.1:c.169+1006C>G	NP_001263432.1:n.169+1006C>G
NM_001276504.1:c.165C>G	NP_001263433.1:p.Ser55=
NM_001276506.1:c.282C>G	NP_001263435.1:p.Ser94=
NM_003002.3:c.282C>G	NP_002993.1:p.Ser94=
NR_077060.1:n.366C>G
NM_003002.4:c.282C>G MANE Select	NP_002993.1:p.Ser94=
NM_001276503.2:c.169+1006C>G	NP_001263432.1:n.169+1006C>G
NM_001276504.2:c.165C>G	NP_001263433.1:p.Ser55=
NM_001276506.2:c.282C>G	NP_001263435.1:p.Ser94=
NR_077060.2:n.317C>G