Canonical Allele Identifier: CA2791028152

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34995910A>G , CM000673.2:g.34995910A>G	GRCh38
NC_000011.9:g.35017457A>G , CM000673.1:g.35017457A>G	GRCh37
NC_000011.8:g.34974033A>G	NCBI36
NG_013368.1:g.84781A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.*738A>G	ENSP00000389404.3:n.*738A>G
ENST00000227868.9:c.*738A>G MANE Select	ENSP00000227868.4:n.*738A>G
ENST00000227868.8:c.*738A>G	ENSP00000227868.4:n.*738A>G
ENST00000448838.7:c.*738A>G	ENSP00000389404.2:n.*738A>G
ENST00000477173.3:n.161+3531A>G
NM_001135024.1:c.*738A>G	NP_001128496.1:n.*738A>G
NM_001166158.1:c.*738A>G	NP_001159630.1:n.*738A>G
NM_003477.2:c.*738A>G	NP_003468.2:n.*738A>G
XM_011520390.1:c.*738A>G	XP_011518692.1:n.*738A>G
NM_003477.3:c.*738A>G MANE Select	NP_003468.2:n.*738A>G
NM_001135024.2:c.*738A>G	NP_001128496.2:n.*738A>G
NM_001166158.2:c.*738A>G	NP_001159630.1:n.*738A>G