Canonical Allele Identifier: CA016777
Gene: SDHD HGNC NCBI
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112087953A>G , CM000673.2:g.112087953A>G GRCh38
NC_000011.9:g.111958677A>G , CM000673.1:g.111958677A>G GRCh37
NC_000011.8:g.111463887A>G NCBI36
NG_012337.2:g.6107A>G
NG_033145.1:g.3846T>C
NG_012337.3:g.6107A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.149A>G ENSP00000432946.2:p.His50Arg
ENST00000534010.2:c.149A>G ENSP00000433202.2:p.His50Arg
ENST00000375549.8:c.149A>G MANE Select ENSP00000364699.3:p.His50Arg
ENST00000528021.6:c.149A>G ENSP00000432465.1:p.His50Arg
ENST00000640554.1:c.149A>G ENSP00000491141.1:p.His50Arg
ENST00000375549.7:c.149A>G ENSP00000364699.3:p.His50Arg
ENST00000525291.5:c.53-914A>G ENSP00000436669.1:n.53-914A>G
ENST00000525987.5:n.154A>G
ENST00000526592.5:c.149A>G ENSP00000432005.1:p.His50Arg
ENST00000528021.5:c.149A>G ENSP00000432465.1:p.His50Arg
ENST00000528048.5:c.149A>G ENSP00000436217.1:p.His50Arg
ENST00000528182.5:c.149A>G ENSP00000435475.1:p.His50Arg
ENST00000530923.5:c.139A>G
ENST00000531744.5:c.149A>G ENSP00000456957.1:p.His50Arg
ENST00000532699.1:c.149A>G ENSP00000456434.1:p.His50Arg
ENST00000614349.4:c.149A>G ENSP00000480666.1:p.His50Arg
NM_001276503.1:c.149A>G NP_001263432.1:p.His50Arg
NM_001276504.1:c.53-914A>G NP_001263433.1:n.53-914A>G
NM_001276506.1:c.149A>G NP_001263435.1:p.His50Arg
NM_003002.3:c.149A>G NP_002993.1:p.His50Arg
NR_077060.1:n.233A>G
NM_003002.4:c.149A>G MANE Select NP_002993.1:p.His50Arg
NM_001276503.2:c.149A>G NP_001263432.1:p.His50Arg
NM_001276504.2:c.53-914A>G NP_001263433.1:n.53-914A>G
NM_001276506.2:c.149A>G NP_001263435.1:p.His50Arg
NR_077060.2:n.184A>G