Canonical Allele Identifier: CA382617287

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1809575
• ClinVar RCV Id: RCV002481150
• gnomAD v4: 11-112088933-T-G
• MyVariant Identifiers: chr11:g.111959657T>G (hg19) ; chr11:g.112088933T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088933T>G , CM000673.2:g.112088933T>G	GRCh38
NC_000011.9:g.111959657T>G , CM000673.1:g.111959657T>G	GRCh37
NC_000011.8:g.111464867T>G	NCBI36
NG_012337.2:g.7087T>G
NG_033145.1:g.2866A>C
NG_012337.3:g.7087T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.236T>G	ENSP00000432946.2:p.Leu79Arg
ENST00000534010.2:c.236T>G	ENSP00000433202.2:p.Leu79Arg
ENST00000375549.8:c.236T>G MANE Select	ENSP00000364699.3:p.Leu79Arg
ENST00000528021.6:c.236T>G	ENSP00000432465.1:p.Leu79Arg
ENST00000640554.1:c.*308T>G	ENSP00000491141.1:n.*308T>G
ENST00000375549.7:c.236T>G	ENSP00000364699.3:p.Leu79Arg
ENST00000525291.5:c.119T>G	ENSP00000436669.1:p.Leu40Arg
ENST00000525987.5:n.241T>G
ENST00000526592.5:c.236T>G	ENSP00000432005.1:p.Leu79Arg
ENST00000528021.5:c.236T>G	ENSP00000432465.1:p.Leu79Arg
ENST00000528048.5:c.169+960T>G	ENSP00000436217.1:n.169+960T>G
ENST00000528182.5:c.236T>G	ENSP00000435475.1:p.Leu79Arg
ENST00000530923.5:c.226T>G
ENST00000531744.5:c.236T>G	ENSP00000456957.1:p.Leu79Arg
ENST00000532699.1:c.236T>G	ENSP00000456434.1:p.Leu79Arg
ENST00000534010.1:c.67T>G
ENST00000614349.4:c.236T>G	ENSP00000480666.1:p.Leu79Arg
NM_001276503.1:c.169+960T>G	NP_001263432.1:n.169+960T>G
NM_001276504.1:c.119T>G	NP_001263433.1:p.Leu40Arg
NM_001276506.1:c.236T>G	NP_001263435.1:p.Leu79Arg
NM_003002.3:c.236T>G	NP_002993.1:p.Leu79Arg
NR_077060.1:n.320T>G
NM_003002.4:c.236T>G MANE Select	NP_002993.1:p.Leu79Arg
NM_001276503.2:c.169+960T>G	NP_001263432.1:n.169+960T>G
NM_001276504.2:c.119T>G	NP_001263433.1:p.Leu40Arg
NM_001276506.2:c.236T>G	NP_001263435.1:p.Leu79Arg
NR_077060.2:n.271T>G