Canonical Allele Identifier: CA380123551

Gene: PDHX APIP

Linked Data

• MyVariant Identifiers: chr11:g.34938006T>A (hg19) ; chr11:g.34916459T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916459T>A , CM000673.2:g.34916459T>A	GRCh38
NC_000011.9:g.34938006T>A , CM000673.1:g.34938006T>A	GRCh37
NC_000011.8:g.34894582T>A	NCBI36
NG_013368.1:g.5330T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-48T>A (PDHX)	ENSP00000389404.3:n.-48T>A
ENST00000395787.3:c.-175A>T (APIP)	ENSP00000379133.3:n.-175A>T
ENST00000448838.7:c.88T>A (PDHX)	ENSP00000389404.2:p.Ser30Thr
ENST00000533550.5:c.-21+521T>A (PDHX)	ENSP00000431281.1:n.-21+521T>A
NM_001135024.1:c.88T>A (PDHX)	NP_001128496.1:p.Ser30Thr
NM_001166158.1:c.-197T>A (PDHX)	NP_001159630.1:n.-197T>A
NM_003477.2:c.-197T>A (PDHX)	NP_003468.2:n.-197T>A
XM_011520390.1:c.-21+521T>A (PDHX)	XP_011518692.1:n.-21+521T>A
NM_001135024.2:c.-48T>A (PDHX)	NP_001128496.2:n.-48T>A