Canonical Allele Identifier: CA380123510

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34916439A>C , CM000673.2:g.34916439A>C GRCh38
NC_000011.9:g.34937986A>C , CM000673.1:g.34937986A>C GRCh37
NC_000011.8:g.34894562A>C NCBI36
NG_013368.1:g.5310A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000448838.8:c.-68A>C (PDHX) ENSP00000389404.3:n.-68A>C
ENST00000395787.3:c.-155T>G (APIP) ENSP00000379133.3:n.-155T>G
ENST00000448838.7:c.68A>C (PDHX) ENSP00000389404.2:p.Lys23Thr
ENST00000533550.5:c.-21+501A>C (PDHX) ENSP00000431281.1:n.-21+501A>C
NM_001135024.1:c.68A>C (PDHX) NP_001128496.1:p.Lys23Thr
NM_001166158.1:c.-217A>C (PDHX) NP_001159630.1:n.-217A>C
NM_003477.2:c.-217A>C (PDHX) NP_003468.2:n.-217A>C
XM_011520390.1:c.-21+501A>C (PDHX) XP_011518692.1:n.-21+501A>C
NM_001135024.2:c.-68A>C (PDHX) NP_001128496.2:n.-68A>C