Canonical Allele Identifier: CA382619243

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1359777
• ClinVar RCV Id: RCV001904546
• dbSNP Id: rs2135277637
• MyVariant Identifiers: chr11:g.111965618C>T (hg19) ; chr11:g.112094894C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094894C>T , CM000673.2:g.112094894C>T	GRCh38
NC_000011.9:g.111965618C>T , CM000673.1:g.111965618C>T	GRCh37
NC_000011.8:g.111470828C>T	NCBI36
NG_012337.2:g.13048C>T
NG_012337.3:g.13048C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*143C>T	ENSP00000432946.2:n.*143C>T
ENST00000534010.2:c.314+5883C>T	ENSP00000433202.2:n.314+5883C>T
ENST00000375549.8:c.404C>T MANE Select	ENSP00000364699.3:p.Thr135Ile
ENST00000528021.6:c.314+5883C>T	ENSP00000432465.1:n.314+5883C>T
ENST00000375549.7:c.404C>T	ENSP00000364699.3:p.Thr135Ile
ENST00000525291.5:c.287C>T	ENSP00000436669.1:p.Thr96Ile
ENST00000525987.5:n.319+5883C>T
ENST00000526592.5:c.*102C>T	ENSP00000432005.1:n.*102C>T
ENST00000528021.5:c.314+5883C>T	ENSP00000432465.1:n.314+5883C>T
ENST00000528048.5:c.*1C>T	ENSP00000436217.1:n.*1C>T
ENST00000528182.5:c.*1C>T	ENSP00000435475.1:n.*1C>T
ENST00000530923.5:c.448C>T
ENST00000531744.5:c.314+5883C>T	ENSP00000456957.1:n.314+5883C>T
ENST00000532699.1:c.314+5883C>T	ENSP00000456434.1:n.314+5883C>T
ENST00000534010.1:c.145+5883C>T
NM_001276503.1:c.*1C>T	NP_001263432.1:n.*1C>T
NM_001276504.1:c.287C>T	NP_001263433.1:p.Thr96Ile
NM_001276506.1:c.*102C>T	NP_001263435.1:n.*102C>T
NM_003002.3:c.404C>T	NP_002993.1:p.Thr135Ile
NR_077060.1:n.542C>T
NM_003002.4:c.404C>T MANE Select	NP_002993.1:p.Thr135Ile
NM_001276503.2:c.*1C>T	NP_001263432.1:n.*1C>T
NM_001276504.2:c.287C>T	NP_001263433.1:p.Thr96Ile
NM_001276506.2:c.*102C>T	NP_001263435.1:n.*102C>T
NR_077060.2:n.493C>T