Canonical Allele Identifier: CA382618818

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1046089
• ClinVar RCV Id: RCV002242415
• dbSNP Id: rs1865809730
• MyVariant Identifiers: chr11:g.111965548A>G (hg19) ; chr11:g.112094824A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094824A>G , CM000673.2:g.112094824A>G	GRCh38
NC_000011.9:g.111965548A>G , CM000673.1:g.111965548A>G	GRCh37
NC_000011.8:g.111470758A>G	NCBI36
NG_012337.2:g.12978A>G
NG_012337.3:g.12978A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*73A>G	ENSP00000432946.2:n.*73A>G
ENST00000534010.2:c.314+5813A>G	ENSP00000433202.2:n.314+5813A>G
ENST00000375549.8:c.334A>G MANE Select	ENSP00000364699.3:p.Thr112Ala
ENST00000528021.6:c.314+5813A>G	ENSP00000432465.1:n.314+5813A>G
ENST00000375549.7:c.334A>G	ENSP00000364699.3:p.Thr112Ala
ENST00000525291.5:c.217A>G	ENSP00000436669.1:p.Thr73Ala
ENST00000525987.5:n.319+5813A>G
ENST00000526592.5:c.*32A>G	ENSP00000432005.1:n.*32A>G
ENST00000528021.5:c.314+5813A>G	ENSP00000432465.1:n.314+5813A>G
ENST00000528048.5:c.189A>G	ENSP00000436217.1:p.Leu63=
ENST00000528182.5:c.327A>G	ENSP00000435475.1:p.Leu109=
ENST00000530923.5:c.378A>G
ENST00000531744.5:c.314+5813A>G	ENSP00000456957.1:n.314+5813A>G
ENST00000532699.1:c.314+5813A>G	ENSP00000456434.1:n.314+5813A>G
ENST00000534010.1:c.145+5813A>G
NM_001276503.1:c.189A>G	NP_001263432.1:p.Leu63=
NM_001276504.1:c.217A>G	NP_001263433.1:p.Thr73Ala
NM_001276506.1:c.*32A>G	NP_001263435.1:n.*32A>G
NM_003002.3:c.334A>G	NP_002993.1:p.Thr112Ala
NR_077060.1:n.472A>G
NM_003002.4:c.334A>G MANE Select	NP_002993.1:p.Thr112Ala
NM_001276503.2:c.189A>G	NP_001263432.1:p.Leu63=
NM_001276504.2:c.217A>G	NP_001263433.1:p.Thr73Ala
NM_001276506.2:c.*32A>G	NP_001263435.1:n.*32A>G
NR_077060.2:n.423A>G