Canonical Allele Identifier: CA5945672

Gene: PDHX APIP

Linked Data

• dbSNP Id: rs773929855
• ExAC: 11:34938038 G / A
• gnomAD v2: 11-34938038-G-A
• gnomAD v3: 11-34916491-G-A
• gnomAD v4: 11-34916491-G-A
• MyVariant Identifiers: chr11:g.34938038G>A (hg19) ; chr11:g.34916491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916491G>A , CM000673.2:g.34916491G>A	GRCh38
NC_000011.9:g.34938038G>A , CM000673.1:g.34938038G>A	GRCh37
NC_000011.8:g.34894614G>A	NCBI36
NG_013368.1:g.5362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+5G>A (PDHX)	ENSP00000389404.3:n.-21+5G>A
ENST00000395787.3:c.-207C>T (APIP)	ENSP00000379133.3:n.-207C>T
ENST00000448838.7:c.115+5G>A (PDHX)	ENSP00000389404.2:n.115+5G>A
ENST00000533550.5:c.-21+553G>A (PDHX)	ENSP00000431281.1:n.-21+553G>A
NM_001135024.1:c.115+5G>A (PDHX)	NP_001128496.1:n.115+5G>A
NM_001166158.1:c.-165G>A (PDHX)	NP_001159630.1:n.-165G>A
NM_003477.2:c.-165G>A (PDHX)	NP_003468.2:n.-165G>A
XM_011520390.1:c.-21+553G>A (PDHX)	XP_011518692.1:n.-21+553G>A
NM_001135024.2:c.-21+5G>A (PDHX)	NP_001128496.2:n.-21+5G>A