Canonical Allele Identifier: CA382619290

Gene: SDHD

Linked Data

• ClinVar Variation Id: 465238
• ClinVar RCV Id: RCV002526127 ; RCV003999154
• dbSNP Id: rs1401695686
• MyVariant Identifiers: chr11:g.111965627G>T (hg19) ; chr11:g.112094903G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094903G>T , CM000673.2:g.112094903G>T	GRCh38
NC_000011.9:g.111965627G>T , CM000673.1:g.111965627G>T	GRCh37
NC_000011.8:g.111470837G>T	NCBI36
NG_012337.2:g.13057G>T
NG_012337.3:g.13057G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*152G>T	ENSP00000432946.2:n.*152G>T
ENST00000534010.2:c.314+5892G>T	ENSP00000433202.2:n.314+5892G>T
ENST00000375549.8:c.413G>T MANE Select	ENSP00000364699.3:p.Gly138Val
ENST00000528021.6:c.314+5892G>T	ENSP00000432465.1:n.314+5892G>T
ENST00000375549.7:c.413G>T	ENSP00000364699.3:p.Gly138Val
ENST00000525291.5:c.296G>T	ENSP00000436669.1:p.Gly99Val
ENST00000525987.5:n.319+5892G>T
ENST00000526592.5:c.*111G>T	ENSP00000432005.1:n.*111G>T
ENST00000528021.5:c.314+5892G>T	ENSP00000432465.1:n.314+5892G>T
ENST00000528048.5:c.*10G>T	ENSP00000436217.1:n.*10G>T
ENST00000528182.5:c.*10G>T	ENSP00000435475.1:n.*10G>T
ENST00000530923.5:c.457G>T
ENST00000531744.5:c.314+5892G>T	ENSP00000456957.1:n.314+5892G>T
ENST00000532699.1:c.314+5892G>T	ENSP00000456434.1:n.314+5892G>T
ENST00000534010.1:c.145+5892G>T
NM_001276503.1:c.*10G>T	NP_001263432.1:n.*10G>T
NM_001276504.1:c.296G>T	NP_001263433.1:p.Gly99Val
NM_001276506.1:c.*111G>T	NP_001263435.1:n.*111G>T
NM_003002.3:c.413G>T	NP_002993.1:p.Gly138Val
NR_077060.1:n.551G>T
NM_003002.4:c.413G>T MANE Select	NP_002993.1:p.Gly138Val
NM_001276503.2:c.*10G>T	NP_001263432.1:n.*10G>T
NM_001276504.2:c.296G>T	NP_001263433.1:p.Gly99Val
NM_001276506.2:c.*111G>T	NP_001263435.1:n.*111G>T
NR_077060.2:n.502G>T