Canonical Allele Identifier: CA070931
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 239465
ClinVar RCV Id: RCV001854833
dbSNP Id: rs370165653

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088945C>T , CM000673.2:g.112088945C>T GRCh38
NC_000011.9:g.111959669C>T , CM000673.1:g.111959669C>T GRCh37
NC_000011.8:g.111464879C>T NCBI36
NG_012337.2:g.7099C>T
NG_033145.1:g.2854G>A
NG_012337.3:g.7099C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.248C>T ENSP00000432946.2:p.Ala83Val
ENST00000534010.2:c.248C>T ENSP00000433202.2:p.Ala83Val
ENST00000375549.8:c.248C>T MANE Select ENSP00000364699.3:p.Ala83Val
ENST00000528021.6:c.248C>T ENSP00000432465.1:p.Ala83Val
ENST00000640554.1:c.*320C>T ENSP00000491141.1:n.*320C>T
ENST00000375549.7:c.248C>T ENSP00000364699.3:p.Ala83Val
ENST00000525291.5:c.131C>T ENSP00000436669.1:p.Ala44Val
ENST00000525987.5:n.253C>T
ENST00000526592.5:c.248C>T ENSP00000432005.1:p.Ala83Val
ENST00000528021.5:c.248C>T ENSP00000432465.1:p.Ala83Val
ENST00000528048.5:c.169+972C>T ENSP00000436217.1:n.169+972C>T
ENST00000528182.5:c.248C>T ENSP00000435475.1:p.Ala83Val
ENST00000530923.5:c.238C>T
ENST00000531744.5:c.248C>T ENSP00000456957.1:p.Ala83Val
ENST00000532699.1:c.248C>T ENSP00000456434.1:p.Ala83Val
ENST00000534010.1:c.79C>T
ENST00000614349.4:c.248C>T ENSP00000480666.1:p.Ala83Val
NM_001276503.1:c.169+972C>T NP_001263432.1:n.169+972C>T
NM_001276504.1:c.131C>T NP_001263433.1:p.Ala44Val
NM_001276506.1:c.248C>T NP_001263435.1:p.Ala83Val
NM_003002.3:c.248C>T NP_002993.1:p.Ala83Val
NR_077060.1:n.332C>T
NM_003002.4:c.248C>T MANE Select NP_002993.1:p.Ala83Val
NM_001276503.2:c.169+972C>T NP_001263432.1:n.169+972C>T
NM_001276504.2:c.131C>T NP_001263433.1:p.Ala44Val
NM_001276506.2:c.248C>T NP_001263435.1:p.Ala83Val
NR_077060.2:n.283C>T