Canonical Allele Identifier: CA380123525

Gene: PDHX APIP

Linked Data

• dbSNP Id: rs1456722542
• gnomAD v2: 11-34937992-C-G
• gnomAD v4: 11-34916445-C-G
• MyVariant Identifiers: chr11:g.34937992C>G (hg19) ; chr11:g.34916445C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916445C>G , CM000673.2:g.34916445C>G	GRCh38
NC_000011.9:g.34937992C>G , CM000673.1:g.34937992C>G	GRCh37
NC_000011.8:g.34894568C>G	NCBI36
NG_013368.1:g.5316C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-62C>G (PDHX)	ENSP00000389404.3:n.-62C>G
ENST00000395787.3:c.-161G>C (APIP)	ENSP00000379133.3:n.-161G>C
ENST00000448838.7:c.74C>G (PDHX)	ENSP00000389404.2:p.Pro25Arg
ENST00000533550.5:c.-21+507C>G (PDHX)	ENSP00000431281.1:n.-21+507C>G
NM_001135024.1:c.74C>G (PDHX)	NP_001128496.1:p.Pro25Arg
NM_001166158.1:c.-211C>G (PDHX)	NP_001159630.1:n.-211C>G
NM_003477.2:c.-211C>G (PDHX)	NP_003468.2:n.-211C>G
XM_011520390.1:c.-21+507C>G (PDHX)	XP_011518692.1:n.-21+507C>G
NM_001135024.2:c.-62C>G (PDHX)	NP_001128496.2:n.-62C>G