Canonical Allele Identifier: CA2615982675

Gene: SDHD TIMM8B

Linked Data

• gnomAD v4: 11-112086773-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086773G>C , CM000673.2:g.112086773G>C	GRCh38
NC_000011.9:g.111957497G>C , CM000673.1:g.111957497G>C	GRCh37
NC_000011.8:g.111462707G>C	NCBI36
NG_012337.2:g.4927G>C
NG_033145.1:g.5026C>G
NG_012337.3:g.4927G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375549.7:c.-135G>C (SDHD)	ENSP00000364699.3:n.-135G>C
ENST00000504148.2:c.-50C>G (TIMM8B)	ENSP00000422122.2:n.-50C>G
ENST00000509359.6:c.-50C>G (TIMM8B)	ENSP00000421964.2:n.-50C>G
ENST00000541231.1:c.-5C>G (TIMM8B)	ENSP00000438455.1:n.-5C>G
NM_012459.2:c.-5C>G (TIMM8B)	NP_036591.2:n.-5C>G
NR_028383.1:n.26C>G (TIMM8B)