Canonical Allele Identifier: CA16613250

Gene: SDHD

Linked Data

• ClinVar Variation Id: 412508
• ClinVar RCV Id: RCV002525627
• dbSNP Id: rs1060503775

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094798_112094800delinsAAA , CM000673.2:g.112094798_112094800delinsAAA	GRCh38
NC_000011.9:g.111965522_111965524delinsAAA , CM000673.1:g.111965522_111965524delinsAAA	GRCh37
NC_000011.8:g.111470732_111470734delinsAAA	NCBI36
NG_012337.2:g.12952_12954delinsAAA
NG_012337.3:g.12952_12954delinsAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*54-7_*54-5delinsAAA	ENSP00000432946.2:n.*54-7_*54-5delinsAAA
ENST00000534010.2:c.314+5787_314+5789delinsAAA	ENSP00000433202.2:n.314+5787_314+5789deli...
ENST00000375549.8:c.315-7_315-5delinsAAA MANE Select	ENSP00000364699.3:n.315-7_315-5delinsAAA
ENST00000528021.6:c.314+5787_314+5789delinsAAA	ENSP00000432465.1:n.314+5787_314+5789deli...
ENST00000375549.7:c.315-7_315-5delinsAAA	ENSP00000364699.3:n.315-7_315-5delinsAAA
ENST00000525291.5:c.198-7_198-5delinsAAA	ENSP00000436669.1:n.198-7_198-5delinsAAA
ENST00000525987.5:n.319+5787_319+5789delinsAAA
ENST00000526592.5:c.*13-7_*13-5delinsAAA	ENSP00000432005.1:n.*13-7_*13-5delinsAAA
ENST00000528021.5:c.314+5787_314+5789delinsAAA	ENSP00000432465.1:n.314+5787_314+5789deli...
ENST00000528048.5:c.170-7_170-5delinsAAA	ENSP00000436217.1:n.170-7_170-5delinsAAA
ENST00000528182.5:c.308-7_308-5delinsAAA	ENSP00000435475.1:n.308-7_308-5delinsAAA
ENST00000530923.5:c.359-7_359-5delinsAAA
ENST00000531744.5:c.314+5787_314+5789delinsAAA	ENSP00000456957.1:n.314+5787_314+5789deli...
ENST00000532699.1:c.314+5787_314+5789delinsAAA	ENSP00000456434.1:n.314+5787_314+5789deli...
ENST00000534010.1:c.145+5787_145+5789delinsAAA
NM_001276503.1:c.170-7_170-5delinsAAA	NP_001263432.1:n.170-7_170-5delinsAAA
NM_001276504.1:c.198-7_198-5delinsAAA	NP_001263433.1:n.198-7_198-5delinsAAA
NM_001276506.1:c.*13-7_*13-5delinsAAA	NP_001263435.1:n.*13-7_*13-5delinsAAA
NM_003002.3:c.315-7_315-5delinsAAA	NP_002993.1:n.315-7_315-5delinsAAA
NR_077060.1:n.453-7_453-5delinsAAA
NM_003002.4:c.315-7_315-5delinsAAA MANE Select	NP_002993.1:n.315-7_315-5delinsAAA
NM_001276503.2:c.170-7_170-5delinsAAA	NP_001263432.1:n.170-7_170-5delinsAAA
NM_001276504.2:c.198-7_198-5delinsAAA	NP_001263433.1:n.198-7_198-5delinsAAA
NM_001276506.2:c.*13-7_*13-5delinsAAA	NP_001263435.1:n.*13-7_*13-5delinsAAA
NR_077060.2:n.404-7_404-5delinsAAA