Canonical Allele Identifier: CA380123495

Gene: PDHX APIP

Linked Data

• gnomAD v4: 11-34916430-G-T
• MyVariant Identifiers: chr11:g.34937977G>T (hg19) ; chr11:g.34916430G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916430G>T , CM000673.2:g.34916430G>T	GRCh38
NC_000011.9:g.34937977G>T , CM000673.1:g.34937977G>T	GRCh37
NC_000011.8:g.34894553G>T	NCBI36
NG_013368.1:g.5301G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-77G>T (PDHX)	ENSP00000389404.3:n.-77G>T
ENST00000395787.3:c.-146C>A (APIP)	ENSP00000379133.3:n.-146C>A
ENST00000448838.7:c.59G>T (PDHX)	ENSP00000389404.2:p.Gly20Val
ENST00000533550.5:c.-21+492G>T (PDHX)	ENSP00000431281.1:n.-21+492G>T
NM_001135024.1:c.59G>T (PDHX)	NP_001128496.1:p.Gly20Val
NM_001166158.1:c.-226G>T (PDHX)	NP_001159630.1:n.-226G>T
NM_003477.2:c.-226G>T (PDHX)	NP_003468.2:n.-226G>T
XM_011520390.1:c.-21+492G>T (PDHX)	XP_011518692.1:n.-21+492G>T