Canonical Allele Identifier: CA016659

Gene: SDHD

Linked Data

• ClinVar Variation Id: 185719
• ClinVar RCV Id: RCV000165195 ; RCV002228740
• dbSNP Id: rs786202403
• MyVariant Identifiers: chr11:g.111959725C>A (hg19) ; chr11:g.112089001C>A (hg38)
• PubMed: PMID:10657297 ; PMID:19454582 ; PMID:22025150 ; PMID:22241717

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112089001C>A , CM000673.2:g.112089001C>A	GRCh38
NC_000011.9:g.111959725C>A , CM000673.1:g.111959725C>A	GRCh37
NC_000011.8:g.111464935C>A	NCBI36
NG_012337.2:g.7155C>A
NG_033145.1:g.2798G>T
NG_012337.3:g.7155C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.304C>A	ENSP00000432946.2:p.His102Asn
ENST00000534010.2:c.304C>A	ENSP00000433202.2:p.His102Asn
ENST00000375549.8:c.304C>A MANE Select	ENSP00000364699.3:p.His102Asn
ENST00000528021.6:c.304C>A	ENSP00000432465.1:p.His102Asn
ENST00000640554.1:c.*376C>A	ENSP00000491141.1:n.*376C>A
ENST00000375549.7:c.304C>A	ENSP00000364699.3:p.His102Asn
ENST00000525291.5:c.187C>A	ENSP00000436669.1:p.His63Asn
ENST00000525987.5:n.309C>A
ENST00000526592.5:c.304C>A	ENSP00000432005.1:p.His102Asn
ENST00000528021.5:c.304C>A	ENSP00000432465.1:p.His102Asn
ENST00000528048.5:c.169+1028C>A	ENSP00000436217.1:n.169+1028C>A
ENST00000528182.5:c.304C>A	ENSP00000435475.1:p.His102Asn
ENST00000530923.5:c.294C>A
ENST00000531744.5:c.304C>A	ENSP00000456957.1:p.His102Asn
ENST00000532699.1:c.304C>A	ENSP00000456434.1:p.His102Asn
ENST00000534010.1:c.135C>A
ENST00000614349.4:c.304C>A	ENSP00000480666.1:p.His102Asn
NM_001276503.1:c.169+1028C>A	NP_001263432.1:n.169+1028C>A
NM_001276504.1:c.187C>A	NP_001263433.1:p.His63Asn
NM_001276506.1:c.304C>A	NP_001263435.1:p.His102Asn
NM_003002.3:c.304C>A	NP_002993.1:p.His102Asn
NR_077060.1:n.388C>A
NM_003002.4:c.304C>A MANE Select	NP_002993.1:p.His102Asn
NM_001276503.2:c.169+1028C>A	NP_001263432.1:n.169+1028C>A
NM_001276504.2:c.187C>A	NP_001263433.1:p.His63Asn
NM_001276506.2:c.304C>A	NP_001263435.1:p.His102Asn
NR_077060.2:n.339C>A