Canonical Allele Identifier: CA070865
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 412499
dbSNP Id: rs748545223

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088914A>G , CM000673.2:g.112088914A>G GRCh38
NC_000011.9:g.111959638A>G , CM000673.1:g.111959638A>G GRCh37
NC_000011.8:g.111464848A>G NCBI36
NG_012337.2:g.7068A>G
NG_033145.1:g.2885T>C
NG_012337.3:g.7068A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.217A>G ENSP00000432946.2:p.Ser73Gly
ENST00000534010.2:c.217A>G ENSP00000433202.2:p.Ser73Gly
ENST00000375549.8:c.217A>G MANE Select ENSP00000364699.3:p.Ser73Gly
ENST00000528021.6:c.217A>G ENSP00000432465.1:p.Ser73Gly
ENST00000640554.1:c.*289A>G ENSP00000491141.1:n.*289A>G
ENST00000375549.7:c.217A>G ENSP00000364699.3:p.Ser73Gly
ENST00000525291.5:c.100A>G ENSP00000436669.1:p.Ser34Gly
ENST00000525987.5:n.222A>G
ENST00000526592.5:c.217A>G ENSP00000432005.1:p.Ser73Gly
ENST00000528021.5:c.217A>G ENSP00000432465.1:p.Ser73Gly
ENST00000528048.5:c.169+941A>G ENSP00000436217.1:n.169+941A>G
ENST00000528182.5:c.217A>G ENSP00000435475.1:p.Ser73Gly
ENST00000530923.5:c.207A>G
ENST00000531744.5:c.217A>G ENSP00000456957.1:p.Ser73Gly
ENST00000532699.1:c.217A>G ENSP00000456434.1:p.Ser73Gly
ENST00000534010.1:c.48A>G
ENST00000614349.4:c.217A>G ENSP00000480666.1:p.Ser73Gly
NM_001276503.1:c.169+941A>G NP_001263432.1:n.169+941A>G
NM_001276504.1:c.100A>G NP_001263433.1:p.Ser34Gly
NM_001276506.1:c.217A>G NP_001263435.1:p.Ser73Gly
NM_003002.3:c.217A>G NP_002993.1:p.Ser73Gly
NR_077060.1:n.301A>G
NM_003002.4:c.217A>G MANE Select NP_002993.1:p.Ser73Gly
NM_001276503.2:c.169+941A>G NP_001263432.1:n.169+941A>G
NM_001276504.2:c.100A>G NP_001263433.1:p.Ser34Gly
NM_001276506.2:c.217A>G NP_001263435.1:p.Ser73Gly
NR_077060.2:n.252A>G