Canonical Allele Identifier: CA016789

Gene: SDHD

Linked Data

• ClinVar Variation Id: 6893
• ClinVar RCV Id: RCV000007296 ; RCV000020518 ; RCV000486967 ; RCV000492087 ; RCV002228000
• dbSNP Id: rs80338843
• gnomAD v4: 11-112087916-C-T
• MyVariant Identifiers: chr11:g.111958640C>T (hg19) ; chr11:g.112087916C>T (hg38)
• PubMed: PMID:10657297 ; PMID:11156372 ; PMID:11391798 ; PMID:11897817 ; PMID:12000816 ; PMID:15328326 ; PMID:17563904 ; PMID:19454582 ; PMID:19825962 ; PMID:20301715 ; PMID:20418362 ; PMID:21348866

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112087916C>T , CM000673.2:g.112087916C>T	GRCh38
NC_000011.9:g.111958640C>T , CM000673.1:g.111958640C>T	GRCh37
NC_000011.8:g.111463850C>T	NCBI36
NG_012337.2:g.6070C>T
NG_033145.1:g.3883G>A
NG_012337.3:g.6070C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.112C>T	ENSP00000432946.2:p.Arg38Ter
ENST00000534010.2:c.112C>T	ENSP00000433202.2:p.Arg38Ter
ENST00000375549.8:c.112C>T MANE Select	ENSP00000364699.3:p.Arg38Ter
ENST00000528021.6:c.112C>T	ENSP00000432465.1:p.Arg38Ter
ENST00000640554.1:c.112C>T	ENSP00000491141.1:p.Arg38Ter
ENST00000375549.7:c.112C>T	ENSP00000364699.3:p.Arg38Ter
ENST00000525291.5:c.53-951C>T	ENSP00000436669.1:n.53-951C>T
ENST00000525987.5:n.117C>T
ENST00000526592.5:c.112C>T	ENSP00000432005.1:p.Arg38Ter
ENST00000528021.5:c.112C>T	ENSP00000432465.1:p.Arg38Ter
ENST00000528048.5:c.112C>T	ENSP00000436217.1:p.Arg38Ter
ENST00000528182.5:c.112C>T	ENSP00000435475.1:p.Arg38Ter
ENST00000530923.5:c.102C>T
ENST00000531744.5:c.112C>T	ENSP00000456957.1:p.Arg38Ter
ENST00000532699.1:c.112C>T	ENSP00000456434.1:p.Arg38Ter
ENST00000614349.4:c.112C>T	ENSP00000480666.1:p.Arg38Ter
NM_001276503.1:c.112C>T	NP_001263432.1:p.Arg38Ter
NM_001276504.1:c.53-951C>T	NP_001263433.1:n.53-951C>T
NM_001276506.1:c.112C>T	NP_001263435.1:p.Arg38Ter
NM_003002.3:c.112C>T	NP_002993.1:p.Arg38Ter
NR_077060.1:n.196C>T
NM_003002.4:c.112C>T MANE Select	NP_002993.1:p.Arg38Ter
NM_001276503.2:c.112C>T	NP_001263432.1:p.Arg38Ter
NM_001276504.2:c.53-951C>T	NP_001263433.1:n.53-951C>T
NM_001276506.2:c.112C>T	NP_001263435.1:p.Arg38Ter
NR_077060.2:n.147C>T