Canonical Allele Identifier: CA380123541

Gene: PDHX APIP

Linked Data

• MyVariant Identifiers: chr11:g.34938001A>C (hg19) ; chr11:g.34916454A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916454A>C , CM000673.2:g.34916454A>C	GRCh38
NC_000011.9:g.34938001A>C , CM000673.1:g.34938001A>C	GRCh37
NC_000011.8:g.34894577A>C	NCBI36
NG_013368.1:g.5325A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-53A>C (PDHX)	ENSP00000389404.3:n.-53A>C
ENST00000395787.3:c.-170T>G (APIP)	ENSP00000379133.3:n.-170T>G
ENST00000448838.7:c.83A>C (PDHX)	ENSP00000389404.2:p.Glu28Ala
ENST00000533550.5:c.-21+516A>C (PDHX)	ENSP00000431281.1:n.-21+516A>C
NM_001135024.1:c.83A>C (PDHX)	NP_001128496.1:p.Glu28Ala
NM_001166158.1:c.-202A>C (PDHX)	NP_001159630.1:n.-202A>C
NM_003477.2:c.-202A>C (PDHX)	NP_003468.2:n.-202A>C
XM_011520390.1:c.-21+516A>C (PDHX)	XP_011518692.1:n.-21+516A>C
NM_001135024.2:c.-53A>C (PDHX)	NP_001128496.2:n.-53A>C