Canonical Allele Identifier: CA382618899

Gene: SDHD

Linked Data

• MyVariant Identifiers: chr11:g.111965563G>C (hg19) ; chr11:g.112094839G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094839G>C , CM000673.2:g.112094839G>C	GRCh38
NC_000011.9:g.111965563G>C , CM000673.1:g.111965563G>C	GRCh37
NC_000011.8:g.111470773G>C	NCBI36
NG_012337.2:g.12993G>C
NG_012337.3:g.12993G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*88G>C	ENSP00000432946.2:n.*88G>C
ENST00000534010.2:c.314+5828G>C	ENSP00000433202.2:n.314+5828G>C
ENST00000375549.8:c.349G>C MANE Select	ENSP00000364699.3:p.Gly117Arg
ENST00000528021.6:c.314+5828G>C	ENSP00000432465.1:n.314+5828G>C
ENST00000375549.7:c.349G>C	ENSP00000364699.3:p.Gly117Arg
ENST00000525291.5:c.232G>C	ENSP00000436669.1:p.Gly78Arg
ENST00000525987.5:n.319+5828G>C
ENST00000526592.5:c.*47G>C	ENSP00000432005.1:n.*47G>C
ENST00000528021.5:c.314+5828G>C	ENSP00000432465.1:n.314+5828G>C
ENST00000528048.5:c.204G>C	ENSP00000436217.1:p.Met68Ile
ENST00000528182.5:c.342G>C	ENSP00000435475.1:p.Met114Ile
ENST00000530923.5:c.393G>C
ENST00000531744.5:c.314+5828G>C	ENSP00000456957.1:n.314+5828G>C
ENST00000532699.1:c.314+5828G>C	ENSP00000456434.1:n.314+5828G>C
ENST00000534010.1:c.145+5828G>C
NM_001276503.1:c.204G>C	NP_001263432.1:p.Met68Ile
NM_001276504.1:c.232G>C	NP_001263433.1:p.Gly78Arg
NM_001276506.1:c.*47G>C	NP_001263435.1:n.*47G>C
NM_003002.3:c.349G>C	NP_002993.1:p.Gly117Arg
NR_077060.1:n.487G>C
NM_003002.4:c.349G>C MANE Select	NP_002993.1:p.Gly117Arg
NM_001276503.2:c.204G>C	NP_001263432.1:p.Met68Ile
NM_001276504.2:c.232G>C	NP_001263433.1:p.Gly78Arg
NM_001276506.2:c.*47G>C	NP_001263435.1:n.*47G>C
NR_077060.2:n.438G>C