Canonical Allele Identifier: CA5945936

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34960522T>C , CM000673.2:g.34960522T>C	GRCh38
NC_000011.9:g.34982069T>C , CM000673.1:g.34982069T>C	GRCh37
NC_000011.8:g.34938645T>C	NCBI36
NG_013368.1:g.49393T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003477.3:c.641+4T>C MANE Select	NP_003468.2:n.641+4T>C
ENST00000227868.9:c.641+4T>C MANE Select	ENSP00000227868.4:n.641+4T>C
NM_001135024.1:c.596+4T>C	NP_001128496.1:n.596+4T>C
NM_001135024.2:c.461+4T>C	NP_001128496.2:n.461+4T>C
NM_001166158.1:c.342+12916T>C	NP_001159630.1:n.342+12916T>C
NM_001166158.2:c.342+12916T>C	NP_001159630.1:n.342+12916T>C
NM_003477.2:c.641+4T>C	NP_003468.2:n.641+4T>C
ENST00000227868.8:c.641+4T>C	ENSP00000227868.4:n.641+4T>C
ENST00000430469.6:c.342+12916T>C	ENSP00000415695.2:n.342+12916T>C
ENST00000448838.7:c.596+4T>C	ENSP00000389404.2:n.596+4T>C
ENST00000448838.8:c.461+4T>C	ENSP00000389404.3:n.461+4T>C
XM_011520390.1:c.461+4T>C	XP_011518692.1:n.461+4T>C