Canonical Allele Identifier: CA476790364

Gene: SDHD

Linked Data

• ClinVar Variation Id: 2922059
• ClinVar RCV Id: RCV003785273
• MyVariant Identifiers: chr11:g.111959634T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088910T>G , CM000673.2:g.112088910T>G	GRCh38
NC_000011.9:g.111959634T>G , CM000673.1:g.111959634T>G	GRCh37
NC_000011.8:g.111464844T>G	NCBI36
NG_012337.2:g.7064T>G
NG_033145.1:g.2889A>C
NG_012337.3:g.7064T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.213T>G	ENSP00000432946.2:p.Val71=
ENST00000534010.2:c.213T>G	ENSP00000433202.2:p.Val71=
ENST00000375549.8:c.213T>G MANE Select	ENSP00000364699.3:p.Val71=
ENST00000528021.6:c.213T>G	ENSP00000432465.1:p.Val71=
ENST00000640554.1:c.*285T>G	ENSP00000491141.1:n.*285T>G
ENST00000375549.7:c.213T>G	ENSP00000364699.3:p.Val71=
ENST00000525291.5:c.96T>G	ENSP00000436669.1:p.Val32=
ENST00000525987.5:n.218T>G
ENST00000526592.5:c.213T>G	ENSP00000432005.1:p.Val71=
ENST00000528021.5:c.213T>G	ENSP00000432465.1:p.Val71=
ENST00000528048.5:c.169+937T>G	ENSP00000436217.1:n.169+937T>G
ENST00000528182.5:c.213T>G	ENSP00000435475.1:p.Val71=
ENST00000530923.5:c.203T>G
ENST00000531744.5:c.213T>G	ENSP00000456957.1:p.Val71=
ENST00000532699.1:c.213T>G	ENSP00000456434.1:p.Val71=
ENST00000534010.1:c.44T>G
ENST00000614349.4:c.213T>G	ENSP00000480666.1:p.Val71=
NM_001276503.1:c.169+937T>G	NP_001263432.1:n.169+937T>G
NM_001276504.1:c.96T>G	NP_001263433.1:p.Val32=
NM_001276506.1:c.213T>G	NP_001263435.1:p.Val71=
NM_003002.3:c.213T>G	NP_002993.1:p.Val71=
NR_077060.1:n.297T>G
NM_003002.4:c.213T>G MANE Select	NP_002993.1:p.Val71=
NM_001276503.2:c.169+937T>G	NP_001263432.1:n.169+937T>G
NM_001276504.2:c.96T>G	NP_001263433.1:p.Val32=
NM_001276506.2:c.213T>G	NP_001263435.1:p.Val71=
NR_077060.2:n.248T>G