Canonical Allele Identifier: CA382617303

Gene: SDHD

Linked Data

• ClinVar Variation Id: 2131604
• ClinVar RCV Id: RCV003048286
• dbSNP Id: rs202239399
• MyVariant Identifiers: chr11:g.111959668G>A (hg19) ; chr11:g.112088944G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088944G>A , CM000673.2:g.112088944G>A	GRCh38
NC_000011.9:g.111959668G>A , CM000673.1:g.111959668G>A	GRCh37
NC_000011.8:g.111464878G>A	NCBI36
NG_012337.2:g.7098G>A
NG_033145.1:g.2855C>T
NG_012337.3:g.7098G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.247G>A	ENSP00000432946.2:p.Ala83Thr
ENST00000534010.2:c.247G>A	ENSP00000433202.2:p.Ala83Thr
ENST00000375549.8:c.247G>A MANE Select	ENSP00000364699.3:p.Ala83Thr
ENST00000528021.6:c.247G>A	ENSP00000432465.1:p.Ala83Thr
ENST00000640554.1:c.*319G>A	ENSP00000491141.1:n.*319G>A
ENST00000375549.7:c.247G>A	ENSP00000364699.3:p.Ala83Thr
ENST00000525291.5:c.130G>A	ENSP00000436669.1:p.Ala44Thr
ENST00000525987.5:n.252G>A
ENST00000526592.5:c.247G>A	ENSP00000432005.1:p.Ala83Thr
ENST00000528021.5:c.247G>A	ENSP00000432465.1:p.Ala83Thr
ENST00000528048.5:c.169+971G>A	ENSP00000436217.1:n.169+971G>A
ENST00000528182.5:c.247G>A	ENSP00000435475.1:p.Ala83Thr
ENST00000530923.5:c.237G>A
ENST00000531744.5:c.247G>A	ENSP00000456957.1:p.Ala83Thr
ENST00000532699.1:c.247G>A	ENSP00000456434.1:p.Ala83Thr
ENST00000534010.1:c.78G>A
ENST00000614349.4:c.247G>A	ENSP00000480666.1:p.Ala83Thr
NM_001276503.1:c.169+971G>A	NP_001263432.1:n.169+971G>A
NM_001276504.1:c.130G>A	NP_001263433.1:p.Ala44Thr
NM_001276506.1:c.247G>A	NP_001263435.1:p.Ala83Thr
NM_003002.3:c.247G>A	NP_002993.1:p.Ala83Thr
NR_077060.1:n.331G>A
NM_003002.4:c.247G>A MANE Select	NP_002993.1:p.Ala83Thr
NM_001276503.2:c.169+971G>A	NP_001263432.1:n.169+971G>A
NM_001276504.2:c.130G>A	NP_001263433.1:p.Ala44Thr
NM_001276506.2:c.247G>A	NP_001263435.1:p.Ala83Thr
NR_077060.2:n.282G>A