Canonical Allele Identifier: CA220475134

Gene: PDHX APIP

Linked Data

• dbSNP Id: rs958630928
• gnomAD v4: 11-34916497-C-A
• MyVariant Identifiers: chr11:g.34938044C>A (hg19) ; chr11:g.34916497C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916497C>A , CM000673.2:g.34916497C>A	GRCh38
NC_000011.9:g.34938044C>A , CM000673.1:g.34938044C>A	GRCh37
NC_000011.8:g.34894620C>A	NCBI36
NG_013368.1:g.5368C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+11C>A (PDHX)	ENSP00000389404.3:n.-21+11C>A
ENST00000395787.3:c.-213G>T (APIP)	ENSP00000379133.3:n.-213G>T
ENST00000448838.7:c.115+11C>A (PDHX)	ENSP00000389404.2:n.115+11C>A
ENST00000533550.5:c.-21+559C>A (PDHX)	ENSP00000431281.1:n.-21+559C>A
NM_001135024.1:c.115+11C>A (PDHX)	NP_001128496.1:n.115+11C>A
NM_001166158.1:c.-159C>A (PDHX)	NP_001159630.1:n.-159C>A
NM_003477.2:c.-159C>A (PDHX)	NP_003468.2:n.-159C>A
XM_011520390.1:c.-21+559C>A (PDHX)	XP_011518692.1:n.-21+559C>A
NM_001135024.2:c.-21+11C>A (PDHX)	NP_001128496.2:n.-21+11C>A