Canonical Allele Identifier: CA016665

Gene: SDHD

Linked Data

• ClinVar Variation Id: 6898
• ClinVar RCV Id: RCV000007307 ; RCV000566289 ; RCV002228003
• dbSNP Id: rs104894302
• MyVariant Identifiers: chr11:g.111959726A>T (hg19) ; chr11:g.112089002A>T (hg38)
• PubMed: PMID:10657297 ; PMID:22025150 ; PMID:22241717

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112089002A>T , CM000673.2:g.112089002A>T	GRCh38
NC_000011.9:g.111959726A>T , CM000673.1:g.111959726A>T	GRCh37
NC_000011.8:g.111464936A>T	NCBI36
NG_012337.2:g.7156A>T
NG_033145.1:g.2797T>A
NG_012337.3:g.7156A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.305A>T	ENSP00000432946.2:p.His102Leu
ENST00000534010.2:c.305A>T	ENSP00000433202.2:p.His102Leu
ENST00000375549.8:c.305A>T MANE Select	ENSP00000364699.3:p.His102Leu
ENST00000528021.6:c.305A>T	ENSP00000432465.1:p.His102Leu
ENST00000640554.1:c.*377A>T	ENSP00000491141.1:n.*377A>T
ENST00000375549.7:c.305A>T	ENSP00000364699.3:p.His102Leu
ENST00000525291.5:c.188A>T	ENSP00000436669.1:p.His63Leu
ENST00000525987.5:n.310A>T
ENST00000526592.5:c.305A>T	ENSP00000432005.1:p.His102Leu
ENST00000528021.5:c.305A>T	ENSP00000432465.1:p.His102Leu
ENST00000528048.5:c.169+1029A>T	ENSP00000436217.1:n.169+1029A>T
ENST00000528182.5:c.305A>T	ENSP00000435475.1:p.His102Leu
ENST00000530923.5:c.295A>T
ENST00000531744.5:c.305A>T	ENSP00000456957.1:p.His102Leu
ENST00000532699.1:c.305A>T	ENSP00000456434.1:p.His102Leu
ENST00000534010.1:c.136A>T
ENST00000614349.4:c.305A>T	ENSP00000480666.1:p.His102Leu
NM_001276503.1:c.169+1029A>T	NP_001263432.1:n.169+1029A>T
NM_001276504.1:c.188A>T	NP_001263433.1:p.His63Leu
NM_001276506.1:c.305A>T	NP_001263435.1:p.His102Leu
NM_003002.3:c.305A>T	NP_002993.1:p.His102Leu
NR_077060.1:n.389A>T
NM_003002.4:c.305A>T MANE Select	NP_002993.1:p.His102Leu
NM_001276503.2:c.169+1029A>T	NP_001263432.1:n.169+1029A>T
NM_001276504.2:c.188A>T	NP_001263433.1:p.His63Leu
NM_001276506.2:c.305A>T	NP_001263435.1:p.His102Leu
NR_077060.2:n.340A>T