Canonical Allele Identifier: CA380123608

Gene: PDHX APIP

Linked Data

• MyVariant Identifiers: chr11:g.34938034G>C (hg19) ; chr11:g.34916487G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916487G>C , CM000673.2:g.34916487G>C	GRCh38
NC_000011.9:g.34938034G>C , CM000673.1:g.34938034G>C	GRCh37
NC_000011.8:g.34894610G>C	NCBI36
NG_013368.1:g.5358G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+1G>C (PDHX)	ENSP00000389404.3:n.-21+1G>C
ENST00000395787.3:c.-203C>G (APIP)	ENSP00000379133.3:n.-203C>G
ENST00000448838.7:c.115+1G>C (PDHX)	ENSP00000389404.2:n.115+1G>C
ENST00000533550.5:c.-21+549G>C (PDHX)	ENSP00000431281.1:n.-21+549G>C
NM_001135024.1:c.115+1G>C (PDHX)	NP_001128496.1:n.115+1G>C
NM_001166158.1:c.-169G>C (PDHX)	NP_001159630.1:n.-169G>C
NM_003477.2:c.-169G>C (PDHX)	NP_003468.2:n.-169G>C
XM_011520390.1:c.-21+549G>C (PDHX)	XP_011518692.1:n.-21+549G>C
NM_001135024.2:c.-21+1G>C (PDHX)	NP_001128496.2:n.-21+1G>C