Canonical Allele Identifier: CA598864098

Gene: PDHX APIP

Linked Data

• dbSNP Id: rs1200951421
• gnomAD v2: 11-34938029-G-C
• gnomAD v3: 11-34916482-G-C
• gnomAD v4: 11-34916482-G-C
• MyVariant Identifiers: chr11:g.34938029G>C (hg19) ; chr11:g.34916482G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916482G>C , CM000673.2:g.34916482G>C	GRCh38
NC_000011.9:g.34938029G>C , CM000673.1:g.34938029G>C	GRCh37
NC_000011.8:g.34894605G>C	NCBI36
NG_013368.1:g.5353G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-25G>C (PDHX)	ENSP00000389404.3:n.-25G>C
ENST00000395787.3:c.-198C>G (APIP)	ENSP00000379133.3:n.-198C>G
ENST00000448838.7:c.111G>C (PDHX)	ENSP00000389404.2:p.Pro37=
ENST00000533550.5:c.-21+544G>C (PDHX)	ENSP00000431281.1:n.-21+544G>C
NM_001135024.1:c.111G>C (PDHX)	NP_001128496.1:p.Pro37=
NM_001166158.1:c.-174G>C (PDHX)	NP_001159630.1:n.-174G>C
NM_003477.2:c.-174G>C (PDHX)	NP_003468.2:n.-174G>C
XM_011520390.1:c.-21+544G>C (PDHX)	XP_011518692.1:n.-21+544G>C
NM_001135024.2:c.-25G>C (PDHX)	NP_001128496.2:n.-25G>C