Canonical Allele Identifier: CA382619165

Gene: SDHD

Linked Data

• ClinVar Variation Id: 2452938
• ClinVar RCV Id: RCV003177712
• MyVariant Identifiers: chr11:g.111965605C>T (hg19) ; chr11:g.112094881C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094881C>T , CM000673.2:g.112094881C>T	GRCh38
NC_000011.9:g.111965605C>T , CM000673.1:g.111965605C>T	GRCh37
NC_000011.8:g.111470815C>T	NCBI36
NG_012337.2:g.13035C>T
NG_012337.3:g.13035C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*130C>T	ENSP00000432946.2:n.*130C>T
ENST00000534010.2:c.314+5870C>T	ENSP00000433202.2:n.314+5870C>T
ENST00000375549.8:c.391C>T MANE Select	ENSP00000364699.3:p.Leu131Phe
ENST00000528021.6:c.314+5870C>T	ENSP00000432465.1:n.314+5870C>T
ENST00000375549.7:c.391C>T	ENSP00000364699.3:p.Leu131Phe
ENST00000525291.5:c.274C>T	ENSP00000436669.1:p.Leu92Phe
ENST00000525987.5:n.319+5870C>T
ENST00000526592.5:c.*89C>T	ENSP00000432005.1:n.*89C>T
ENST00000528021.5:c.314+5870C>T	ENSP00000432465.1:n.314+5870C>T
ENST00000528048.5:c.246C>T	ENSP00000436217.1:p.His82=
ENST00000528182.5:c.384C>T	ENSP00000435475.1:p.His128=
ENST00000530923.5:c.435C>T
ENST00000531744.5:c.314+5870C>T	ENSP00000456957.1:n.314+5870C>T
ENST00000532699.1:c.314+5870C>T	ENSP00000456434.1:n.314+5870C>T
ENST00000534010.1:c.145+5870C>T
NM_001276503.1:c.246C>T	NP_001263432.1:p.His82=
NM_001276504.1:c.274C>T	NP_001263433.1:p.Leu92Phe
NM_001276506.1:c.*89C>T	NP_001263435.1:n.*89C>T
NM_003002.3:c.391C>T	NP_002993.1:p.Leu131Phe
NR_077060.1:n.529C>T
NM_003002.4:c.391C>T MANE Select	NP_002993.1:p.Leu131Phe
NM_001276503.2:c.246C>T	NP_001263432.1:p.His82=
NM_001276504.2:c.274C>T	NP_001263433.1:p.Leu92Phe
NM_001276506.2:c.*89C>T	NP_001263435.1:n.*89C>T
NR_077060.2:n.480C>T