Canonical Allele Identifier: CA476790952

Gene: SDHD

Linked Data

• MyVariant Identifiers: chr11:g.111965614T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094890T>C , CM000673.2:g.112094890T>C	GRCh38
NC_000011.9:g.111965614T>C , CM000673.1:g.111965614T>C	GRCh37
NC_000011.8:g.111470824T>C	NCBI36
NG_012337.2:g.13044T>C
NG_012337.3:g.13044T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*139T>C	ENSP00000432946.2:n.*139T>C
ENST00000534010.2:c.314+5879T>C	ENSP00000433202.2:n.314+5879T>C
ENST00000375549.8:c.400T>C MANE Select	ENSP00000364699.3:p.Leu134=
ENST00000528021.6:c.314+5879T>C	ENSP00000432465.1:n.314+5879T>C
ENST00000375549.7:c.400T>C	ENSP00000364699.3:p.Leu134=
ENST00000525291.5:c.283T>C	ENSP00000436669.1:p.Leu95=
ENST00000525987.5:n.319+5879T>C
ENST00000526592.5:c.*98T>C	ENSP00000432005.1:n.*98T>C
ENST00000528021.5:c.314+5879T>C	ENSP00000432465.1:n.314+5879T>C
ENST00000528048.5:c.255T>C	ENSP00000436217.1:p.Leu85=
ENST00000528182.5:c.393T>C	ENSP00000435475.1:p.Leu131=
ENST00000530923.5:c.444T>C
ENST00000531744.5:c.314+5879T>C	ENSP00000456957.1:n.314+5879T>C
ENST00000532699.1:c.314+5879T>C	ENSP00000456434.1:n.314+5879T>C
ENST00000534010.1:c.145+5879T>C
NM_001276503.1:c.255T>C	NP_001263432.1:p.Leu85=
NM_001276504.1:c.283T>C	NP_001263433.1:p.Leu95=
NM_001276506.1:c.*98T>C	NP_001263435.1:n.*98T>C
NM_003002.3:c.400T>C	NP_002993.1:p.Leu134=
NR_077060.1:n.538T>C
NM_003002.4:c.400T>C MANE Select	NP_002993.1:p.Leu134=
NM_001276503.2:c.255T>C	NP_001263432.1:p.Leu85=
NM_001276504.2:c.283T>C	NP_001263433.1:p.Leu95=
NM_001276506.2:c.*98T>C	NP_001263435.1:n.*98T>C
NR_077060.2:n.489T>C