Canonical Allele Identifier: CA942278803

Gene: SDHD

Linked Data

• dbSNP Id: rs1865803211
• gnomAD v3: 11-112094535-G-C
• gnomAD v4: 11-112094535-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094535G>C , CM000673.2:g.112094535G>C	GRCh38
NC_000011.9:g.111965259G>C , CM000673.1:g.111965259G>C	GRCh37
NC_000011.8:g.111470469G>C	NCBI36
NG_012337.2:g.12689G>C
NG_012337.3:g.12689G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*54-270G>C	ENSP00000432946.2:n.*54-270G>C
ENST00000534010.2:c.314+5524G>C	ENSP00000433202.2:n.314+5524G>C
ENST00000375549.8:c.315-270G>C MANE Select	ENSP00000364699.3:n.315-270G>C
ENST00000528021.6:c.314+5524G>C	ENSP00000432465.1:n.314+5524G>C
ENST00000375549.7:c.315-270G>C	ENSP00000364699.3:n.315-270G>C
ENST00000525291.5:c.198-270G>C	ENSP00000436669.1:n.198-270G>C
ENST00000525987.5:n.319+5524G>C
ENST00000526592.5:c.*13-270G>C	ENSP00000432005.1:n.*13-270G>C
ENST00000528021.5:c.314+5524G>C	ENSP00000432465.1:n.314+5524G>C
ENST00000528048.5:c.170-270G>C	ENSP00000436217.1:n.170-270G>C
ENST00000528182.5:c.308-270G>C	ENSP00000435475.1:n.308-270G>C
ENST00000530923.5:c.359-270G>C
ENST00000531744.5:c.314+5524G>C	ENSP00000456957.1:n.314+5524G>C
ENST00000532699.1:c.314+5524G>C	ENSP00000456434.1:n.314+5524G>C
ENST00000534010.1:c.145+5524G>C
NM_001276503.1:c.170-270G>C	NP_001263432.1:n.170-270G>C
NM_001276504.1:c.198-270G>C	NP_001263433.1:n.198-270G>C
NM_001276506.1:c.*13-270G>C	NP_001263435.1:n.*13-270G>C
NM_003002.3:c.315-270G>C	NP_002993.1:n.315-270G>C
NR_077060.1:n.453-270G>C
NM_003002.4:c.315-270G>C MANE Select	NP_002993.1:n.315-270G>C
NM_001276503.2:c.170-270G>C	NP_001263432.1:n.170-270G>C
NM_001276504.2:c.198-270G>C	NP_001263433.1:n.198-270G>C
NM_001276506.2:c.*13-270G>C	NP_001263435.1:n.*13-270G>C
NR_077060.2:n.404-270G>C