Canonical Allele Identifier: CA382618880

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1446421
• ClinVar RCV Id: RCV001992831 ; RCV002334955
• dbSNP Id: rs2135277443
• MyVariant Identifiers: chr11:g.111965560C>T (hg19) ; chr11:g.112094836C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094836C>T , CM000673.2:g.112094836C>T	GRCh38
NC_000011.9:g.111965560C>T , CM000673.1:g.111965560C>T	GRCh37
NC_000011.8:g.111470770C>T	NCBI36
NG_012337.2:g.12990C>T
NG_012337.3:g.12990C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*85C>T	ENSP00000432946.2:n.*85C>T
ENST00000534010.2:c.314+5825C>T	ENSP00000433202.2:n.314+5825C>T
ENST00000375549.8:c.346C>T MANE Select	ENSP00000364699.3:p.His116Tyr
ENST00000528021.6:c.314+5825C>T	ENSP00000432465.1:n.314+5825C>T
ENST00000375549.7:c.346C>T	ENSP00000364699.3:p.His116Tyr
ENST00000525291.5:c.229C>T	ENSP00000436669.1:p.His77Tyr
ENST00000525987.5:n.319+5825C>T
ENST00000526592.5:c.*44C>T	ENSP00000432005.1:n.*44C>T
ENST00000528021.5:c.314+5825C>T	ENSP00000432465.1:n.314+5825C>T
ENST00000528048.5:c.201C>T	ENSP00000436217.1:p.Phe67=
ENST00000528182.5:c.339C>T	ENSP00000435475.1:p.Phe113=
ENST00000530923.5:c.390C>T
ENST00000531744.5:c.314+5825C>T	ENSP00000456957.1:n.314+5825C>T
ENST00000532699.1:c.314+5825C>T	ENSP00000456434.1:n.314+5825C>T
ENST00000534010.1:c.145+5825C>T
NM_001276503.1:c.201C>T	NP_001263432.1:p.Phe67=
NM_001276504.1:c.229C>T	NP_001263433.1:p.His77Tyr
NM_001276506.1:c.*44C>T	NP_001263435.1:n.*44C>T
NM_003002.3:c.346C>T	NP_002993.1:p.His116Tyr
NR_077060.1:n.484C>T
NM_003002.4:c.346C>T MANE Select	NP_002993.1:p.His116Tyr
NM_001276503.2:c.201C>T	NP_001263432.1:p.Phe67=
NM_001276504.2:c.229C>T	NP_001263433.1:p.His77Tyr
NM_001276506.2:c.*44C>T	NP_001263435.1:n.*44C>T
NR_077060.2:n.435C>T