Canonical Allele Identifier: CA016739

Gene: SDHD

Linked Data

• ClinVar Variation Id: 6903
• ClinVar RCV Id: RCV000007312 ; RCV000193132 ; RCV000492341 ; RCV000657641 ; RCV002228006
• dbSNP Id: rs104894306
• gnomAD v4: 11-112087868-C-T
• MyVariant Identifiers: chr11:g.111958592C>T (hg19) ; chr11:g.112087868C>T (hg38)
• PubMed: PMID:10846047 ; PMID:11391798 ; PMID:11605159 ; PMID:16314641 ; PMID:16317055 ; PMID:19258401 ; PMID:22241717

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112087868C>T , CM000673.2:g.112087868C>T	GRCh38
NC_000011.9:g.111958592C>T , CM000673.1:g.111958592C>T	GRCh37
NC_000011.8:g.111463802C>T	NCBI36
NG_012337.2:g.6022C>T
NG_033145.1:g.3931G>A
NG_012337.3:g.6022C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.64C>T	ENSP00000432946.2:p.Arg22Ter
ENST00000534010.2:c.64C>T	ENSP00000433202.2:p.Arg22Ter
ENST00000375549.8:c.64C>T MANE Select	ENSP00000364699.3:p.Arg22Ter
ENST00000528021.6:c.64C>T	ENSP00000432465.1:p.Arg22Ter
ENST00000640554.1:c.64C>T	ENSP00000491141.1:p.Arg22Ter
ENST00000375549.7:c.64C>T	ENSP00000364699.3:p.Arg22Ter
ENST00000525291.5:c.52+909C>T	ENSP00000436669.1:n.52+909C>T
ENST00000525987.5:n.69C>T
ENST00000526592.5:c.64C>T	ENSP00000432005.1:p.Arg22Ter
ENST00000528021.5:c.64C>T	ENSP00000432465.1:p.Arg22Ter
ENST00000528048.5:c.64C>T	ENSP00000436217.1:p.Arg22Ter
ENST00000528182.5:c.64C>T	ENSP00000435475.1:p.Arg22Ter
ENST00000530923.5:c.54C>T
ENST00000531744.5:c.64C>T	ENSP00000456957.1:p.Arg22Ter
ENST00000532699.1:c.64C>T	ENSP00000456434.1:p.Arg22Ter
ENST00000614349.4:c.64C>T	ENSP00000480666.1:p.Arg22Ter
NM_001276503.1:c.64C>T	NP_001263432.1:p.Arg22Ter
NM_001276504.1:c.52+909C>T	NP_001263433.1:n.52+909C>T
NM_001276506.1:c.64C>T	NP_001263435.1:p.Arg22Ter
NM_003002.3:c.64C>T	NP_002993.1:p.Arg22Ter
NR_077060.1:n.148C>T
NM_003002.4:c.64C>T MANE Select	NP_002993.1:p.Arg22Ter
NM_001276503.2:c.64C>T	NP_001263432.1:p.Arg22Ter
NM_001276504.2:c.52+909C>T	NP_001263433.1:n.52+909C>T
NM_001276506.2:c.64C>T	NP_001263435.1:p.Arg22Ter
NR_077060.2:n.99C>T