Canonical Allele Identifier: CA942279058

Gene: SDHD

Linked Data

• dbSNP Id: rs1865821282
• gnomAD v3: 11-112095274-C-T
• gnomAD v4: 11-112095274-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112095274C>T , CM000673.2:g.112095274C>T	GRCh38
NC_000011.9:g.111965998C>T , CM000673.1:g.111965998C>T	GRCh37
NC_000011.8:g.111471208C>T	NCBI36
NG_012337.2:g.13428C>T
NG_012337.3:g.13428C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534010.2:c.314+6263C>T	ENSP00000433202.2:n.314+6263C>T
ENST00000375549.8:c.*304C>T MANE Select	ENSP00000364699.3:n.*304C>T
ENST00000528021.6:c.314+6263C>T	ENSP00000432465.1:n.314+6263C>T
ENST00000375549.7:c.*304C>T	ENSP00000364699.3:n.*304C>T
ENST00000525291.5:c.*304C>T	ENSP00000436669.1:n.*304C>T
ENST00000525987.5:n.319+6263C>T
ENST00000528021.5:c.314+6263C>T	ENSP00000432465.1:n.314+6263C>T
ENST00000528048.5:c.*381C>T	ENSP00000436217.1:n.*381C>T
ENST00000531744.5:c.314+6263C>T	ENSP00000456957.1:n.314+6263C>T
ENST00000532699.1:c.314+6263C>T	ENSP00000456434.1:n.314+6263C>T
ENST00000534010.1:c.145+6263C>T
NM_001276503.1:c.*381C>T	NP_001263432.1:n.*381C>T
NM_001276504.1:c.*304C>T	NP_001263433.1:n.*304C>T
NM_001276506.1:c.*482C>T	NP_001263435.1:n.*482C>T
NM_003002.3:c.*304C>T	NP_002993.1:n.*304C>T
NR_077060.1:n.922C>T
NM_003002.4:c.*304C>T MANE Select	NP_002993.1:n.*304C>T
NM_001276503.2:c.*381C>T	NP_001263432.1:n.*381C>T
NM_001276504.2:c.*304C>T	NP_001263433.1:n.*304C>T
NM_001276506.2:c.*482C>T	NP_001263435.1:n.*482C>T
NR_077060.2:n.873C>T