Canonical Allele Identifier: CA2000561917

Gene: SDHD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088925C= , CM000673.2:g.112088925C=	GRCh38
NC_000011.9:g.111959649C= , CM000673.1:g.111959649C=	GRCh37
NC_000011.8:g.111464859C=	NCBI36
NG_012337.2:g.7079C=
NG_033145.1:g.2874G=
NG_012337.3:g.7079C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.228C=	ENSP00000432946.2:p.Leu76=
ENST00000534010.2:c.228C=	ENSP00000433202.2:p.Leu76=
ENST00000375549.8:c.228C= MANE Select	ENSP00000364699.3:p.Leu76=
ENST00000528021.6:c.228C=	ENSP00000432465.1:p.Leu76=
ENST00000640554.1:c.*300C=	ENSP00000491141.1:n.*300C=
ENST00000375549.7:c.228C=	ENSP00000364699.3:p.Leu76=
ENST00000525291.5:c.111C=	ENSP00000436669.1:p.Leu37=
ENST00000525987.5:n.233C=
ENST00000526592.5:c.228C=	ENSP00000432005.1:p.Leu76=
ENST00000528021.5:c.228C=	ENSP00000432465.1:p.Leu76=
ENST00000528048.5:c.169+952C=	ENSP00000436217.1:n.169+952C=
ENST00000528182.5:c.228C=	ENSP00000435475.1:p.Leu76=
ENST00000530923.5:c.218C=
ENST00000531744.5:c.228C=	ENSP00000456957.1:p.Leu76=
ENST00000532699.1:c.228C=	ENSP00000456434.1:p.Leu76=
ENST00000534010.1:c.59C=
ENST00000614349.4:c.228C=	ENSP00000480666.1:p.Leu76=
NM_001276503.1:c.169+952C=	NP_001263432.1:n.169+952C=
NM_001276504.1:c.111C=	NP_001263433.1:p.Leu37=
NM_001276506.1:c.228C=	NP_001263435.1:p.Leu76=
NM_003002.3:c.228C=	NP_002993.1:p.Leu76=
NR_077060.1:n.312C=
NM_003002.4:c.228C= MANE Select	NP_002993.1:p.Leu76=
NM_001276503.2:c.169+952C=	NP_001263432.1:n.169+952C=
NM_001276504.2:c.111C=	NP_001263433.1:p.Leu37=
NM_001276506.2:c.228C=	NP_001263435.1:p.Leu76=
NR_077060.2:n.263C=