Canonical Allele Identifier: CA936780578

Gene: PDHX APIP

Linked Data

• dbSNP Id: rs759318998
• gnomAD v3: 11-34916494-C-T
• gnomAD v4: 11-34916494-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916494C>T , CM000673.2:g.34916494C>T	GRCh38
NC_000011.9:g.34938041C>T , CM000673.1:g.34938041C>T	GRCh37
NC_000011.8:g.34894617C>T	NCBI36
NG_013368.1:g.5365C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+8C>T (PDHX)	ENSP00000389404.3:n.-21+8C>T
ENST00000395787.3:c.-210G>A (APIP)	ENSP00000379133.3:n.-210G>A
ENST00000448838.7:c.115+8C>T (PDHX)	ENSP00000389404.2:n.115+8C>T
ENST00000533550.5:c.-21+556C>T (PDHX)	ENSP00000431281.1:n.-21+556C>T
NM_001135024.1:c.115+8C>T (PDHX)	NP_001128496.1:n.115+8C>T
NM_001166158.1:c.-162C>T (PDHX)	NP_001159630.1:n.-162C>T
NM_003477.2:c.-162C>T (PDHX)	NP_003468.2:n.-162C>T
XM_011520390.1:c.-21+556C>T (PDHX)	XP_011518692.1:n.-21+556C>T
NM_001135024.2:c.-21+8C>T (PDHX)	NP_001128496.2:n.-21+8C>T