Canonical Allele Identifier: CA382617203

Gene: SDHD

Linked Data

• ClinVar Variation Id: 2573946
• ClinVar RCV Id: RCV003318282
• MyVariant Identifiers: chr11:g.111959617T>C (hg19) ; chr11:g.112088893T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088893T>C , CM000673.2:g.112088893T>C	GRCh38
NC_000011.9:g.111959617T>C , CM000673.1:g.111959617T>C	GRCh37
NC_000011.8:g.111464827T>C	NCBI36
NG_012337.2:g.7047T>C
NG_033145.1:g.2906A>G
NG_012337.3:g.7047T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.196T>C	ENSP00000432946.2:p.Trp66Arg
ENST00000534010.2:c.196T>C	ENSP00000433202.2:p.Trp66Arg
ENST00000375549.8:c.196T>C MANE Select	ENSP00000364699.3:p.Trp66Arg
ENST00000528021.6:c.196T>C	ENSP00000432465.1:p.Trp66Arg
ENST00000640554.1:c.*268T>C	ENSP00000491141.1:n.*268T>C
ENST00000375549.7:c.196T>C	ENSP00000364699.3:p.Trp66Arg
ENST00000525291.5:c.79T>C	ENSP00000436669.1:p.Trp27Arg
ENST00000525987.5:n.201T>C
ENST00000526592.5:c.196T>C	ENSP00000432005.1:p.Trp66Arg
ENST00000528021.5:c.196T>C	ENSP00000432465.1:p.Trp66Arg
ENST00000528048.5:c.169+920T>C	ENSP00000436217.1:n.169+920T>C
ENST00000528182.5:c.196T>C	ENSP00000435475.1:p.Trp66Arg
ENST00000530923.5:c.186T>C
ENST00000531744.5:c.196T>C	ENSP00000456957.1:p.Trp66Arg
ENST00000532699.1:c.196T>C	ENSP00000456434.1:p.Trp66Arg
ENST00000534010.1:c.27T>C
ENST00000614349.4:c.196T>C	ENSP00000480666.1:p.Trp66Arg
NM_001276503.1:c.169+920T>C	NP_001263432.1:n.169+920T>C
NM_001276504.1:c.79T>C	NP_001263433.1:p.Trp27Arg
NM_001276506.1:c.196T>C	NP_001263435.1:p.Trp66Arg
NM_003002.3:c.196T>C	NP_002993.1:p.Trp66Arg
NR_077060.1:n.280T>C
NM_003002.4:c.196T>C MANE Select	NP_002993.1:p.Trp66Arg
NM_001276503.2:c.169+920T>C	NP_001263432.1:n.169+920T>C
NM_001276504.2:c.79T>C	NP_001263433.1:p.Trp27Arg
NM_001276506.2:c.196T>C	NP_001263435.1:p.Trp66Arg
NR_077060.2:n.231T>C