Canonical Allele Identifier: CA382617221

Gene: SDHD

Linked Data

• ClinVar Variation Id: 2933592
• ClinVar RCV Id: RCV003793150
• MyVariant Identifiers: chr11:g.111959624G>C (hg19) ; chr11:g.112088900G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088900G>C , CM000673.2:g.112088900G>C	GRCh38
NC_000011.9:g.111959624G>C , CM000673.1:g.111959624G>C	GRCh37
NC_000011.8:g.111464834G>C	NCBI36
NG_012337.2:g.7054G>C
NG_033145.1:g.2899C>G
NG_012337.3:g.7054G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.203G>C	ENSP00000432946.2:p.Ser68Thr
ENST00000534010.2:c.203G>C	ENSP00000433202.2:p.Ser68Thr
ENST00000375549.8:c.203G>C MANE Select	ENSP00000364699.3:p.Ser68Thr
ENST00000528021.6:c.203G>C	ENSP00000432465.1:p.Ser68Thr
ENST00000640554.1:c.*275G>C	ENSP00000491141.1:n.*275G>C
ENST00000375549.7:c.203G>C	ENSP00000364699.3:p.Ser68Thr
ENST00000525291.5:c.86G>C	ENSP00000436669.1:p.Ser29Thr
ENST00000525987.5:n.208G>C
ENST00000526592.5:c.203G>C	ENSP00000432005.1:p.Ser68Thr
ENST00000528021.5:c.203G>C	ENSP00000432465.1:p.Ser68Thr
ENST00000528048.5:c.169+927G>C	ENSP00000436217.1:n.169+927G>C
ENST00000528182.5:c.203G>C	ENSP00000435475.1:p.Ser68Thr
ENST00000530923.5:c.193G>C
ENST00000531744.5:c.203G>C	ENSP00000456957.1:p.Ser68Thr
ENST00000532699.1:c.203G>C	ENSP00000456434.1:p.Ser68Thr
ENST00000534010.1:c.34G>C
ENST00000614349.4:c.203G>C	ENSP00000480666.1:p.Ser68Thr
NM_001276503.1:c.169+927G>C	NP_001263432.1:n.169+927G>C
NM_001276504.1:c.86G>C	NP_001263433.1:p.Ser29Thr
NM_001276506.1:c.203G>C	NP_001263435.1:p.Ser68Thr
NM_003002.3:c.203G>C	NP_002993.1:p.Ser68Thr
NR_077060.1:n.287G>C
NM_003002.4:c.203G>C MANE Select	NP_002993.1:p.Ser68Thr
NM_001276503.2:c.169+927G>C	NP_001263432.1:n.169+927G>C
NM_001276504.2:c.86G>C	NP_001263433.1:p.Ser29Thr
NM_001276506.2:c.203G>C	NP_001263435.1:p.Ser68Thr
NR_077060.2:n.238G>C