Canonical Allele Identifier: CA071425

Gene: SDHD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094940C>T , CM000673.2:g.112094940C>T	GRCh38
NC_000011.9:g.111965664C>T , CM000673.1:g.111965664C>T	GRCh37
NC_000011.8:g.111470874C>T	NCBI36
NG_012337.2:g.13094C>T
NG_012337.3:g.13094C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003002.4:c.450C>T MANE Select	NP_002993.1:p.Cys150=
ENST00000375549.8:c.450C>T MANE Select	ENSP00000364699.3:p.Cys150=
NM_001276503.1:c.*47C>T	NP_001263432.1:n.*47C>T
NM_001276503.2:c.*47C>T	NP_001263432.1:n.*47C>T
NM_001276504.1:c.333C>T	NP_001263433.1:p.Cys111=
NM_001276504.2:c.333C>T	NP_001263433.1:p.Cys111=
NM_001276506.1:c.*148C>T	NP_001263435.1:n.*148C>T
NM_001276506.2:c.*148C>T	NP_001263435.1:n.*148C>T
NM_003002.3:c.450C>T	NP_002993.1:p.Cys150=
NR_077060.1:n.588C>T
NR_077060.2:n.539C>T
ENST00000375549.7:c.450C>T	ENSP00000364699.3:p.Cys150=
ENST00000525291.5:c.333C>T	ENSP00000436669.1:p.Cys111=
ENST00000525987.5:n.319+5929C>T
ENST00000526592.5:c.*148C>T	ENSP00000432005.1:n.*148C>T
ENST00000528021.5:c.314+5929C>T	ENSP00000432465.1:n.314+5929C>T
ENST00000528021.6:c.314+5929C>T	ENSP00000432465.1:n.314+5929C>T
ENST00000528048.5:c.*47C>T	ENSP00000436217.1:n.*47C>T
ENST00000528182.5:c.*47C>T	ENSP00000435475.1:n.*47C>T
ENST00000530923.5:c.494C>T
ENST00000530923.6:c.*189C>T	ENSP00000432946.2:n.*189C>T
ENST00000531744.5:c.314+5929C>T	ENSP00000456957.1:n.314+5929C>T
ENST00000532699.1:c.314+5929C>T	ENSP00000456434.1:n.314+5929C>T
ENST00000534010.1:c.145+5929C>T
ENST00000534010.2:c.314+5929C>T	ENSP00000433202.2:n.314+5929C>T