Canonical Allele Identifier: CA382619195

Gene: SDHD

Linked Data

• ClinVar Variation Id: 2567228
• ClinVar RCV Id: RCV003311138
• gnomAD v4: 11-112094885-C-T
• MyVariant Identifiers: chr11:g.111965609C>T (hg19) ; chr11:g.112094885C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094885C>T , CM000673.2:g.112094885C>T	GRCh38
NC_000011.9:g.111965609C>T , CM000673.1:g.111965609C>T	GRCh37
NC_000011.8:g.111470819C>T	NCBI36
NG_012337.2:g.13039C>T
NG_012337.3:g.13039C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*134C>T	ENSP00000432946.2:n.*134C>T
ENST00000534010.2:c.314+5874C>T	ENSP00000433202.2:n.314+5874C>T
ENST00000375549.8:c.395C>T MANE Select	ENSP00000364699.3:p.Ser132Leu
ENST00000528021.6:c.314+5874C>T	ENSP00000432465.1:n.314+5874C>T
ENST00000375549.7:c.395C>T	ENSP00000364699.3:p.Ser132Leu
ENST00000525291.5:c.278C>T	ENSP00000436669.1:p.Ser93Leu
ENST00000525987.5:n.319+5874C>T
ENST00000526592.5:c.*93C>T	ENSP00000432005.1:n.*93C>T
ENST00000528021.5:c.314+5874C>T	ENSP00000432465.1:n.314+5874C>T
ENST00000528048.5:c.250C>T	ENSP00000436217.1:p.Gln84Ter
ENST00000528182.5:c.388C>T	ENSP00000435475.1:p.Gln130Ter
ENST00000530923.5:c.439C>T
ENST00000531744.5:c.314+5874C>T	ENSP00000456957.1:n.314+5874C>T
ENST00000532699.1:c.314+5874C>T	ENSP00000456434.1:n.314+5874C>T
ENST00000534010.1:c.145+5874C>T
NM_001276503.1:c.250C>T	NP_001263432.1:p.Gln84Ter
NM_001276504.1:c.278C>T	NP_001263433.1:p.Ser93Leu
NM_001276506.1:c.*93C>T	NP_001263435.1:n.*93C>T
NM_003002.3:c.395C>T	NP_002993.1:p.Ser132Leu
NR_077060.1:n.533C>T
NM_003002.4:c.395C>T MANE Select	NP_002993.1:p.Ser132Leu
NM_001276503.2:c.250C>T	NP_001263432.1:p.Gln84Ter
NM_001276504.2:c.278C>T	NP_001263433.1:p.Ser93Leu
NM_001276506.2:c.*93C>T	NP_001263435.1:n.*93C>T
NR_077060.2:n.484C>T