Canonical Allele Identifier: CA382619099

Gene: SDHD

Linked Data

• ClinVar Variation Id: 3223043
• ClinVar RCV Id: RCV004508398
• MyVariant Identifiers: chr11:g.111965595G>C (hg19) ; chr11:g.112094871G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094871G>C , CM000673.2:g.112094871G>C	GRCh38
NC_000011.9:g.111965595G>C , CM000673.1:g.111965595G>C	GRCh37
NC_000011.8:g.111470805G>C	NCBI36
NG_012337.2:g.13025G>C
NG_012337.3:g.13025G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*120G>C	ENSP00000432946.2:n.*120G>C
ENST00000534010.2:c.314+5860G>C	ENSP00000433202.2:n.314+5860G>C
ENST00000375549.8:c.381G>C MANE Select	ENSP00000364699.3:p.Gly127=
ENST00000528021.6:c.314+5860G>C	ENSP00000432465.1:n.314+5860G>C
ENST00000375549.7:c.381G>C	ENSP00000364699.3:p.Gly127=
ENST00000525291.5:c.264G>C	ENSP00000436669.1:p.Gly88=
ENST00000525987.5:n.319+5860G>C
ENST00000526592.5:c.*79G>C	ENSP00000432005.1:n.*79G>C
ENST00000528021.5:c.314+5860G>C	ENSP00000432465.1:n.314+5860G>C
ENST00000528048.5:c.236G>C	ENSP00000436217.1:p.Gly79Ala
ENST00000528182.5:c.374G>C	ENSP00000435475.1:p.Gly125Ala
ENST00000530923.5:c.425G>C
ENST00000531744.5:c.314+5860G>C	ENSP00000456957.1:n.314+5860G>C
ENST00000532699.1:c.314+5860G>C	ENSP00000456434.1:n.314+5860G>C
ENST00000534010.1:c.145+5860G>C
NM_001276503.1:c.236G>C	NP_001263432.1:p.Gly79Ala
NM_001276504.1:c.264G>C	NP_001263433.1:p.Gly88=
NM_001276506.1:c.*79G>C	NP_001263435.1:n.*79G>C
NM_003002.3:c.381G>C	NP_002993.1:p.Gly127=
NR_077060.1:n.519G>C
NM_003002.4:c.381G>C MANE Select	NP_002993.1:p.Gly127=
NM_001276503.2:c.236G>C	NP_001263432.1:p.Gly79Ala
NM_001276504.2:c.264G>C	NP_001263433.1:p.Gly88=
NM_001276506.2:c.*79G>C	NP_001263435.1:n.*79G>C
NR_077060.2:n.470G>C