Canonical Allele Identifier: CA228556024

Gene: SDHD

Linked Data

• dbSNP Id: rs1048862377
• gnomAD v4: 11-112095257-C-T
• MyVariant Identifiers: chr11:g.111965981C>T (hg19) ; chr11:g.112095257C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112095257C>T , CM000673.2:g.112095257C>T	GRCh38
NC_000011.9:g.111965981C>T , CM000673.1:g.111965981C>T	GRCh37
NC_000011.8:g.111471191C>T	NCBI36
NG_012337.2:g.13411C>T
NG_012337.3:g.13411C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534010.2:c.314+6246C>T	ENSP00000433202.2:n.314+6246C>T
ENST00000375549.8:c.*287C>T MANE Select	ENSP00000364699.3:n.*287C>T
ENST00000528021.6:c.314+6246C>T	ENSP00000432465.1:n.314+6246C>T
ENST00000375549.7:c.*287C>T	ENSP00000364699.3:n.*287C>T
ENST00000525291.5:c.*287C>T	ENSP00000436669.1:n.*287C>T
ENST00000525987.5:n.319+6246C>T
ENST00000528021.5:c.314+6246C>T	ENSP00000432465.1:n.314+6246C>T
ENST00000528048.5:c.*364C>T	ENSP00000436217.1:n.*364C>T
ENST00000531744.5:c.314+6246C>T	ENSP00000456957.1:n.314+6246C>T
ENST00000532699.1:c.314+6246C>T	ENSP00000456434.1:n.314+6246C>T
ENST00000534010.1:c.145+6246C>T
NM_001276503.1:c.*364C>T	NP_001263432.1:n.*364C>T
NM_001276504.1:c.*287C>T	NP_001263433.1:n.*287C>T
NM_001276506.1:c.*465C>T	NP_001263435.1:n.*465C>T
NM_003002.3:c.*287C>T	NP_002993.1:n.*287C>T
NR_077060.1:n.905C>T
NM_003002.4:c.*287C>T MANE Select	NP_002993.1:n.*287C>T
NM_001276503.2:c.*364C>T	NP_001263432.1:n.*364C>T
NM_001276504.2:c.*287C>T	NP_001263433.1:n.*287C>T
NM_001276506.2:c.*465C>T	NP_001263435.1:n.*465C>T
NR_077060.2:n.856C>T