Canonical Allele Identifier: CA382618845

Gene: SDHD

Linked Data

• ClinVar Variation Id: 694526
• ClinVar RCV Id: RCV000856585
• dbSNP Id: rs876659276
• MyVariant Identifiers: chr11:g.111965554T>C (hg19) ; chr11:g.112094830T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094830T>C , CM000673.2:g.112094830T>C	GRCh38
NC_000011.9:g.111965554T>C , CM000673.1:g.111965554T>C	GRCh37
NC_000011.8:g.111470764T>C	NCBI36
NG_012337.2:g.12984T>C
NG_012337.3:g.12984T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*79T>C	ENSP00000432946.2:n.*79T>C
ENST00000534010.2:c.314+5819T>C	ENSP00000433202.2:n.314+5819T>C
ENST00000375549.8:c.340T>C MANE Select	ENSP00000364699.3:p.Tyr114His
ENST00000528021.6:c.314+5819T>C	ENSP00000432465.1:n.314+5819T>C
ENST00000375549.7:c.340T>C	ENSP00000364699.3:p.Tyr114His
ENST00000525291.5:c.223T>C	ENSP00000436669.1:p.Tyr75His
ENST00000525987.5:n.319+5819T>C
ENST00000526592.5:c.*38T>C	ENSP00000432005.1:n.*38T>C
ENST00000528021.5:c.314+5819T>C	ENSP00000432465.1:n.314+5819T>C
ENST00000528048.5:c.195T>C	ENSP00000436217.1:p.Thr65=
ENST00000528182.5:c.333T>C	ENSP00000435475.1:p.Thr111=
ENST00000530923.5:c.384T>C
ENST00000531744.5:c.314+5819T>C	ENSP00000456957.1:n.314+5819T>C
ENST00000532699.1:c.314+5819T>C	ENSP00000456434.1:n.314+5819T>C
ENST00000534010.1:c.145+5819T>C
NM_001276503.1:c.195T>C	NP_001263432.1:p.Thr65=
NM_001276504.1:c.223T>C	NP_001263433.1:p.Tyr75His
NM_001276506.1:c.*38T>C	NP_001263435.1:n.*38T>C
NM_003002.3:c.340T>C	NP_002993.1:p.Tyr114His
NR_077060.1:n.478T>C
NM_003002.4:c.340T>C MANE Select	NP_002993.1:p.Tyr114His
NM_001276503.2:c.195T>C	NP_001263432.1:p.Thr65=
NM_001276504.2:c.223T>C	NP_001263433.1:p.Tyr75His
NM_001276506.2:c.*38T>C	NP_001263435.1:n.*38T>C
NR_077060.2:n.429T>C