Canonical Allele Identifier: CA380123499

Gene: PDHX APIP

Linked Data

• dbSNP Id: rs1853701200
• gnomAD v3: 11-34916433-C-A
• gnomAD v4: 11-34916433-C-A
• MyVariant Identifiers: chr11:g.34937980C>A (hg19) ; chr11:g.34916433C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916433C>A , CM000673.2:g.34916433C>A	GRCh38
NC_000011.9:g.34937980C>A , CM000673.1:g.34937980C>A	GRCh37
NC_000011.8:g.34894556C>A	NCBI36
NG_013368.1:g.5304C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-74C>A (PDHX)	ENSP00000389404.3:n.-74C>A
ENST00000395787.3:c.-149G>T (APIP)	ENSP00000379133.3:n.-149G>T
ENST00000448838.7:c.62C>A (PDHX)	ENSP00000389404.2:p.Ser21Tyr
ENST00000533550.5:c.-21+495C>A (PDHX)	ENSP00000431281.1:n.-21+495C>A
NM_001135024.1:c.62C>A (PDHX)	NP_001128496.1:p.Ser21Tyr
NM_001166158.1:c.-223C>A (PDHX)	NP_001159630.1:n.-223C>A
NM_003477.2:c.-223C>A (PDHX)	NP_003468.2:n.-223C>A
XM_011520390.1:c.-21+495C>A (PDHX)	XP_011518692.1:n.-21+495C>A