Canonical Allele Identifier: CA382618883

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1421519
• ClinVar RCV Id: RCV001943819
• dbSNP Id: rs2135277447
• MyVariant Identifiers: chr11:g.111965561A>T (hg19) ; chr11:g.112094837A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094837A>T , CM000673.2:g.112094837A>T	GRCh38
NC_000011.9:g.111965561A>T , CM000673.1:g.111965561A>T	GRCh37
NC_000011.8:g.111470771A>T	NCBI36
NG_012337.2:g.12991A>T
NG_012337.3:g.12991A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*86A>T	ENSP00000432946.2:n.*86A>T
ENST00000534010.2:c.314+5826A>T	ENSP00000433202.2:n.314+5826A>T
ENST00000375549.8:c.347A>T MANE Select	ENSP00000364699.3:p.His116Leu
ENST00000528021.6:c.314+5826A>T	ENSP00000432465.1:n.314+5826A>T
ENST00000375549.7:c.347A>T	ENSP00000364699.3:p.His116Leu
ENST00000525291.5:c.230A>T	ENSP00000436669.1:p.His77Leu
ENST00000525987.5:n.319+5826A>T
ENST00000526592.5:c.*45A>T	ENSP00000432005.1:n.*45A>T
ENST00000528021.5:c.314+5826A>T	ENSP00000432465.1:n.314+5826A>T
ENST00000528048.5:c.202A>T	ENSP00000436217.1:p.Met68Leu
ENST00000528182.5:c.340A>T	ENSP00000435475.1:p.Met114Leu
ENST00000530923.5:c.391A>T
ENST00000531744.5:c.314+5826A>T	ENSP00000456957.1:n.314+5826A>T
ENST00000532699.1:c.314+5826A>T	ENSP00000456434.1:n.314+5826A>T
ENST00000534010.1:c.145+5826A>T
NM_001276503.1:c.202A>T	NP_001263432.1:p.Met68Leu
NM_001276504.1:c.230A>T	NP_001263433.1:p.His77Leu
NM_001276506.1:c.*45A>T	NP_001263435.1:n.*45A>T
NM_003002.3:c.347A>T	NP_002993.1:p.His116Leu
NR_077060.1:n.485A>T
NM_003002.4:c.347A>T MANE Select	NP_002993.1:p.His116Leu
NM_001276503.2:c.202A>T	NP_001263432.1:p.Met68Leu
NM_001276504.2:c.230A>T	NP_001263433.1:p.His77Leu
NM_001276506.2:c.*45A>T	NP_001263435.1:n.*45A>T
NR_077060.2:n.436A>T