Canonical Allele Identifier: CA2000559404

Linked Data

dbSNP Id: rs1865612989

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112086783C>T , CM000673.2:g.112086783C>T GRCh38
NC_000011.9:g.111957507C>T , CM000673.1:g.111957507C>T GRCh37
NC_000011.8:g.111462717C>T NCBI36
NG_012337.2:g.4937C>T
NG_033145.1:g.5016G>A
NG_012337.3:g.4937C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375549.7:c.-125C>T (SDHD) ENSP00000364699.3:n.-125C>T
ENST00000504148.2:c.-60G>A (TIMM8B) ENSP00000422122.2:n.-60G>A
ENST00000509359.6:c.-60G>A (TIMM8B) ENSP00000421964.2:n.-60G>A
ENST00000541231.1:c.-15G>A (TIMM8B) ENSP00000438455.1:n.-15G>A
NM_012459.2:c.-15G>A (TIMM8B) NP_036591.2:n.-15G>A
NR_028383.1:n.16G>A (TIMM8B)