Canonical Allele Identifier: CA380123612

Gene: PDHX APIP

Linked Data

• MyVariant Identifiers: chr11:g.34938035C>G (hg19) ; chr11:g.34916488C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916488C>G , CM000673.2:g.34916488C>G	GRCh38
NC_000011.9:g.34938035C>G , CM000673.1:g.34938035C>G	GRCh37
NC_000011.8:g.34894611C>G	NCBI36
NG_013368.1:g.5359C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+2C>G (PDHX)	ENSP00000389404.3:n.-21+2C>G
ENST00000395787.3:c.-204G>C (APIP)	ENSP00000379133.3:n.-204G>C
ENST00000448838.7:c.115+2C>G (PDHX)	ENSP00000389404.2:n.115+2C>G
ENST00000533550.5:c.-21+550C>G (PDHX)	ENSP00000431281.1:n.-21+550C>G
NM_001135024.1:c.115+2C>G (PDHX)	NP_001128496.1:n.115+2C>G
NM_001166158.1:c.-168C>G (PDHX)	NP_001159630.1:n.-168C>G
NM_003477.2:c.-168C>G (PDHX)	NP_003468.2:n.-168C>G
XM_011520390.1:c.-21+550C>G (PDHX)	XP_011518692.1:n.-21+550C>G
NM_001135024.2:c.-21+2C>G (PDHX)	NP_001128496.2:n.-21+2C>G