Canonical Allele Identifier: CA10579345
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 231390
dbSNP Id: rs876659130

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112087951dup , CM000673.2:g.112087951dup GRCh38
NC_000011.9:g.111958675dup , CM000673.1:g.111958675dup GRCh37
NC_000011.8:g.111463885dup NCBI36
NG_012337.2:g.6105dup
NG_033145.1:g.3848dup
NG_012337.3:g.6105dup

Transcript Alleles

HGVS Amino-acid change
ENST00000530923.6:c.147dup ENSP00000432946.2:p.His50ThrfsTer19
ENST00000534010.2:c.147dup ENSP00000433202.2:p.His50ThrfsTer19
ENST00000375549.8:c.147dup MANE Select ENSP00000364699.3:p.His50ThrfsTer19
ENST00000528021.6:c.147dup ENSP00000432465.1:p.His50ThrfsTer19
ENST00000640554.1:c.147dup ENSP00000491141.1:p.His50ThrfsTer?
ENST00000375549.7:c.147dup ENSP00000364699.3:p.His50ThrfsTer19
ENST00000525291.5:c.53-916dup ENSP00000436669.1:n.53-916dup
ENST00000525987.5:n.152dup
ENST00000526592.5:c.147dup ENSP00000432005.1:p.His50ThrfsTer19
ENST00000528021.5:c.147dup ENSP00000432465.1:p.His50ThrfsTer19
ENST00000528048.5:c.147dup ENSP00000436217.1:p.His50ThrfsTer?
ENST00000528182.5:c.147dup ENSP00000435475.1:p.His50ThrfsTer19
ENST00000530923.5:c.137dup
ENST00000531744.5:c.147dup ENSP00000456957.1:p.His50ThrfsTer19
ENST00000532699.1:c.147dup ENSP00000456434.1:p.His50ThrfsTer19
ENST00000614349.4:c.147dup ENSP00000480666.1:p.His50ThrfsTer19
NM_001276503.1:c.147dup NP_001263432.1:p.His50ThrfsTer?
NM_001276504.1:c.53-916dup NP_001263433.1:n.53-916dup
NM_001276506.1:c.147dup NP_001263435.1:p.His50ThrfsTer19
NM_003002.3:c.147dup NP_002993.1:p.His50ThrfsTer19
NR_077060.1:n.231dup
NM_003002.4:c.147dup MANE Select NP_002993.1:p.His50ThrfsTer19
NM_001276503.2:c.147dup NP_001263432.1:p.His50ThrfsTer?
NM_001276504.2:c.53-916dup NP_001263433.1:n.53-916dup
NM_001276506.2:c.147dup NP_001263435.1:p.His50ThrfsTer19
NR_077060.2:n.182dup