Canonical Allele Identifier: CA382618964

Gene: SDHD

Linked Data

• MyVariant Identifiers: chr11:g.111965573T>G (hg19) ; chr11:g.112094849T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094849T>G , CM000673.2:g.112094849T>G	GRCh38
NC_000011.9:g.111965573T>G , CM000673.1:g.111965573T>G	GRCh37
NC_000011.8:g.111470783T>G	NCBI36
NG_012337.2:g.13003T>G
NG_012337.3:g.13003T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*98T>G	ENSP00000432946.2:n.*98T>G
ENST00000534010.2:c.314+5838T>G	ENSP00000433202.2:n.314+5838T>G
ENST00000375549.8:c.359T>G MANE Select	ENSP00000364699.3:p.Leu120Trp
ENST00000528021.6:c.314+5838T>G	ENSP00000432465.1:n.314+5838T>G
ENST00000375549.7:c.359T>G	ENSP00000364699.3:p.Leu120Trp
ENST00000525291.5:c.242T>G	ENSP00000436669.1:p.Leu81Trp
ENST00000525987.5:n.319+5838T>G
ENST00000526592.5:c.*57T>G	ENSP00000432005.1:n.*57T>G
ENST00000528021.5:c.314+5838T>G	ENSP00000432465.1:n.314+5838T>G
ENST00000528048.5:c.214T>G	ENSP00000436217.1:p.Cys72Gly
ENST00000528182.5:c.352T>G	ENSP00000435475.1:p.Cys118Gly
ENST00000530923.5:c.403T>G
ENST00000531744.5:c.314+5838T>G	ENSP00000456957.1:n.314+5838T>G
ENST00000532699.1:c.314+5838T>G	ENSP00000456434.1:n.314+5838T>G
ENST00000534010.1:c.145+5838T>G
NM_001276503.1:c.214T>G	NP_001263432.1:p.Cys72Gly
NM_001276504.1:c.242T>G	NP_001263433.1:p.Leu81Trp
NM_001276506.1:c.*57T>G	NP_001263435.1:n.*57T>G
NM_003002.3:c.359T>G	NP_002993.1:p.Leu120Trp
NR_077060.1:n.497T>G
NM_003002.4:c.359T>G MANE Select	NP_002993.1:p.Leu120Trp
NM_001276503.2:c.214T>G	NP_001263432.1:p.Cys72Gly
NM_001276504.2:c.242T>G	NP_001263433.1:p.Leu81Trp
NM_001276506.2:c.*57T>G	NP_001263435.1:n.*57T>G
NR_077060.2:n.448T>G