Canonical Allele Identifier: CA2581051709
Gene: SDHD HGNC NCBI
TIMM8B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112086789C>A , CM000673.2:g.112086789C>A GRCh38
NC_000011.9:g.111957513C>A , CM000673.1:g.111957513C>A GRCh37
NC_000011.8:g.111462723C>A NCBI36
NG_012337.2:g.4943C>A
NG_033145.1:g.5010G>T
NG_012337.3:g.4943C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375549.7:c.-119C>A (SDHD) ENSP00000364699.3:n.-119C>A
ENST00000504148.2:c.-66G>T (TIMM8B) ENSP00000422122.2:n.-66G>T
ENST00000509359.6:c.-66G>T (TIMM8B) ENSP00000421964.2:n.-66G>T
ENST00000541231.1:c.-21G>T (TIMM8B) ENSP00000438455.1:n.-21G>T
NM_012459.2:c.-21G>T (TIMM8B) NP_036591.2:n.-21G>T
NR_028383.1:n.10G>T (TIMM8B)
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