Canonical Allele Identifier: CA1963422178

Linked Data

dbSNP Id: rs563586329

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34916499T>A , CM000673.2:g.34916499T>A GRCh38
NC_000011.9:g.34938046T>A , CM000673.1:g.34938046T>A GRCh37
NC_000011.8:g.34894622T>A NCBI36
NG_013368.1:g.5370T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000448838.8:c.-21+13T>A (PDHX) ENSP00000389404.3:n.-21+13T>A
ENST00000395787.3:c.-215A>T (APIP) ENSP00000379133.3:n.-215A>T
ENST00000448838.7:c.115+13T>A (PDHX) ENSP00000389404.2:n.115+13T>A
ENST00000533550.5:c.-21+561T>A (PDHX) ENSP00000431281.1:n.-21+561T>A
NM_001135024.1:c.115+13T>A (PDHX) NP_001128496.1:n.115+13T>A
NM_001166158.1:c.-157T>A (PDHX) NP_001159630.1:n.-157T>A
NM_003477.2:c.-157T>A (PDHX) NP_003468.2:n.-157T>A
XM_011520390.1:c.-21+561T>A (PDHX) XP_011518692.1:n.-21+561T>A
NM_001135024.2:c.-21+13T>A (PDHX) NP_001128496.2:n.-21+13T>A