Canonical Allele Identifier: CA2000561942

Gene: SDHD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088936T= , CM000673.2:g.112088936T=	GRCh38
NC_000011.9:g.111959660T= , CM000673.1:g.111959660T=	GRCh37
NC_000011.8:g.111464870T=	NCBI36
NG_012337.2:g.7090T=
NG_033145.1:g.2863A=
NG_012337.3:g.7090T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.239T=	ENSP00000432946.2:p.Leu80=
ENST00000534010.2:c.239T=	ENSP00000433202.2:p.Leu80=
ENST00000375549.8:c.239T= MANE Select	ENSP00000364699.3:p.Leu80=
ENST00000528021.6:c.239T=	ENSP00000432465.1:p.Leu80=
ENST00000640554.1:c.*311T=	ENSP00000491141.1:n.*311T=
ENST00000375549.7:c.239T=	ENSP00000364699.3:p.Leu80=
ENST00000525291.5:c.122T=	ENSP00000436669.1:p.Leu41=
ENST00000525987.5:n.244T=
ENST00000526592.5:c.239T=	ENSP00000432005.1:p.Leu80=
ENST00000528021.5:c.239T=	ENSP00000432465.1:p.Leu80=
ENST00000528048.5:c.169+963T=	ENSP00000436217.1:n.169+963T=
ENST00000528182.5:c.239T=	ENSP00000435475.1:p.Leu80=
ENST00000530923.5:c.229T=
ENST00000531744.5:c.239T=	ENSP00000456957.1:p.Leu80=
ENST00000532699.1:c.239T=	ENSP00000456434.1:p.Leu80=
ENST00000534010.1:c.70T=
ENST00000614349.4:c.239T=	ENSP00000480666.1:p.Leu80=
NM_001276503.1:c.169+963T=	NP_001263432.1:n.169+963T=
NM_001276504.1:c.122T=	NP_001263433.1:p.Leu41=
NM_001276506.1:c.239T=	NP_001263435.1:p.Leu80=
NM_003002.3:c.239T=	NP_002993.1:p.Leu80=
NR_077060.1:n.323T=
NM_003002.4:c.239T= MANE Select	NP_002993.1:p.Leu80=
NM_001276503.2:c.169+963T=	NP_001263432.1:n.169+963T=
NM_001276504.2:c.122T=	NP_001263433.1:p.Leu41=
NM_001276506.2:c.239T=	NP_001263435.1:p.Leu80=
NR_077060.2:n.274T=