Canonical Allele Identifier: CA382619352

Gene: SDHD

Linked Data

• dbSNP Id: rs2135277709
• MyVariant Identifiers: chr11:g.111965639T>G (hg19) ; chr11:g.112094915T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094915T>G , CM000673.2:g.112094915T>G	GRCh38
NC_000011.9:g.111965639T>G , CM000673.1:g.111965639T>G	GRCh37
NC_000011.8:g.111470849T>G	NCBI36
NG_012337.2:g.13069T>G
NG_012337.3:g.13069T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*164T>G	ENSP00000432946.2:n.*164T>G
ENST00000534010.2:c.314+5904T>G	ENSP00000433202.2:n.314+5904T>G
ENST00000375549.8:c.425T>G MANE Select	ENSP00000364699.3:p.Phe142Cys
ENST00000528021.6:c.314+5904T>G	ENSP00000432465.1:n.314+5904T>G
ENST00000375549.7:c.425T>G	ENSP00000364699.3:p.Phe142Cys
ENST00000525291.5:c.308T>G	ENSP00000436669.1:p.Phe103Cys
ENST00000525987.5:n.319+5904T>G
ENST00000526592.5:c.*123T>G	ENSP00000432005.1:n.*123T>G
ENST00000528021.5:c.314+5904T>G	ENSP00000432465.1:n.314+5904T>G
ENST00000528048.5:c.*22T>G	ENSP00000436217.1:n.*22T>G
ENST00000528182.5:c.*22T>G	ENSP00000435475.1:n.*22T>G
ENST00000530923.5:c.469T>G
ENST00000531744.5:c.314+5904T>G	ENSP00000456957.1:n.314+5904T>G
ENST00000532699.1:c.314+5904T>G	ENSP00000456434.1:n.314+5904T>G
ENST00000534010.1:c.145+5904T>G
NM_001276503.1:c.*22T>G	NP_001263432.1:n.*22T>G
NM_001276504.1:c.308T>G	NP_001263433.1:p.Phe103Cys
NM_001276506.1:c.*123T>G	NP_001263435.1:n.*123T>G
NM_003002.3:c.425T>G	NP_002993.1:p.Phe142Cys
NR_077060.1:n.563T>G
NM_003002.4:c.425T>G MANE Select	NP_002993.1:p.Phe142Cys
NM_001276503.2:c.*22T>G	NP_001263432.1:n.*22T>G
NM_001276504.2:c.308T>G	NP_001263433.1:p.Phe103Cys
NM_001276506.2:c.*123T>G	NP_001263435.1:n.*123T>G
NR_077060.2:n.514T>G