Canonical Allele Identifier: CA070935
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 412501
dbSNP Id: rs199517389

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088952G>C , CM000673.2:g.112088952G>C GRCh38
NC_000011.9:g.111959676G>C , CM000673.1:g.111959676G>C GRCh37
NC_000011.8:g.111464886G>C NCBI36
NG_012337.2:g.7106G>C
NG_033145.1:g.2847C>G
NG_012337.3:g.7106G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.255G>C ENSP00000432946.2:p.Leu85Phe
ENST00000534010.2:c.255G>C ENSP00000433202.2:p.Leu85Phe
ENST00000375549.8:c.255G>C MANE Select ENSP00000364699.3:p.Leu85Phe
ENST00000528021.6:c.255G>C ENSP00000432465.1:p.Leu85Phe
ENST00000640554.1:c.*327G>C ENSP00000491141.1:n.*327G>C
ENST00000375549.7:c.255G>C ENSP00000364699.3:p.Leu85Phe
ENST00000525291.5:c.138G>C ENSP00000436669.1:p.Leu46Phe
ENST00000525987.5:n.260G>C
ENST00000526592.5:c.255G>C ENSP00000432005.1:p.Leu85Phe
ENST00000528021.5:c.255G>C ENSP00000432465.1:p.Leu85Phe
ENST00000528048.5:c.169+979G>C ENSP00000436217.1:n.169+979G>C
ENST00000528182.5:c.255G>C ENSP00000435475.1:p.Leu85Phe
ENST00000530923.5:c.245G>C
ENST00000531744.5:c.255G>C ENSP00000456957.1:p.Leu85Phe
ENST00000532699.1:c.255G>C ENSP00000456434.1:p.Leu85Phe
ENST00000534010.1:c.86G>C
ENST00000614349.4:c.255G>C ENSP00000480666.1:p.Leu85Phe
NM_001276503.1:c.169+979G>C NP_001263432.1:n.169+979G>C
NM_001276504.1:c.138G>C NP_001263433.1:p.Leu46Phe
NM_001276506.1:c.255G>C NP_001263435.1:p.Leu85Phe
NM_003002.3:c.255G>C NP_002993.1:p.Leu85Phe
NR_077060.1:n.339G>C
NM_003002.4:c.255G>C MANE Select NP_002993.1:p.Leu85Phe
NM_001276503.2:c.169+979G>C NP_001263432.1:n.169+979G>C
NM_001276504.2:c.138G>C NP_001263433.1:p.Leu46Phe
NM_001276506.2:c.255G>C NP_001263435.1:p.Leu85Phe
NR_077060.2:n.290G>C