Canonical Allele Identifier: CA382619454

Gene: SDHD

Linked Data

• ClinVar Variation Id: 2587186
• ClinVar RCV Id: RCV003342035 ; RCV003777491
• dbSNP Id: rs1555187633
• MyVariant Identifiers: chr11:g.111965657G>A (hg19) ; chr11:g.112094933G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094933G>A , CM000673.2:g.112094933G>A	GRCh38
NC_000011.9:g.111965657G>A , CM000673.1:g.111965657G>A	GRCh37
NC_000011.8:g.111470867G>A	NCBI36
NG_012337.2:g.13087G>A
NG_012337.3:g.13087G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*182G>A	ENSP00000432946.2:n.*182G>A
ENST00000534010.2:c.314+5922G>A	ENSP00000433202.2:n.314+5922G>A
ENST00000375549.8:c.443G>A MANE Select	ENSP00000364699.3:p.Gly148Asp
ENST00000528021.6:c.314+5922G>A	ENSP00000432465.1:n.314+5922G>A
ENST00000375549.7:c.443G>A	ENSP00000364699.3:p.Gly148Asp
ENST00000525291.5:c.326G>A	ENSP00000436669.1:p.Gly109Asp
ENST00000525987.5:n.319+5922G>A
ENST00000526592.5:c.*141G>A	ENSP00000432005.1:n.*141G>A
ENST00000528021.5:c.314+5922G>A	ENSP00000432465.1:n.314+5922G>A
ENST00000528048.5:c.*40G>A	ENSP00000436217.1:n.*40G>A
ENST00000528182.5:c.*40G>A	ENSP00000435475.1:n.*40G>A
ENST00000530923.5:c.487G>A
ENST00000531744.5:c.314+5922G>A	ENSP00000456957.1:n.314+5922G>A
ENST00000532699.1:c.314+5922G>A	ENSP00000456434.1:n.314+5922G>A
ENST00000534010.1:c.145+5922G>A
NM_001276503.1:c.*40G>A	NP_001263432.1:n.*40G>A
NM_001276504.1:c.326G>A	NP_001263433.1:p.Gly109Asp
NM_001276506.1:c.*141G>A	NP_001263435.1:n.*141G>A
NM_003002.3:c.443G>A	NP_002993.1:p.Gly148Asp
NR_077060.1:n.581G>A
NM_003002.4:c.443G>A MANE Select	NP_002993.1:p.Gly148Asp
NM_001276503.2:c.*40G>A	NP_001263432.1:n.*40G>A
NM_001276504.2:c.326G>A	NP_001263433.1:p.Gly109Asp
NM_001276506.2:c.*141G>A	NP_001263435.1:n.*141G>A
NR_077060.2:n.532G>A