Canonical Allele Identifier: CA2723403889

Gene: PDHX

Linked Data

• dbSNP Id: rs1201357088

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916523G>C , CM000673.2:g.34916523G>C	GRCh38
NC_000011.9:g.34938070G>C , CM000673.1:g.34938070G>C	GRCh37
NC_000011.8:g.34894646G>C	NCBI36
NG_013368.1:g.5394G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+37G>C	ENSP00000389404.3:n.-21+37G>C
ENST00000448838.7:c.115+37G>C	ENSP00000389404.2:n.115+37G>C
ENST00000533550.5:c.-21+585G>C	ENSP00000431281.1:n.-21+585G>C
NM_001135024.1:c.115+37G>C	NP_001128496.1:n.115+37G>C
NM_001166158.1:c.-133G>C	NP_001159630.1:n.-133G>C
NM_003477.2:c.-133G>C	NP_003468.2:n.-133G>C
XM_011520390.1:c.-21+585G>C	XP_011518692.1:n.-21+585G>C
NM_001135024.2:c.-21+37G>C	NP_001128496.2:n.-21+37G>C