Canonical Allele Identifier: CA5945744

Gene: PDHX

Linked Data

• ClinVar Variation Id: 379681
• ClinVar RCV Id: RCV000417644 ; RCV002061654
• dbSNP Id: rs375574196
• ExAC: 11:34938374 G / C
• gnomAD v2: 11-34938374-G-C
• gnomAD v3: 11-34916827-G-C
• gnomAD v4: 11-34916827-G-C
• MyVariant Identifiers: chr11:g.34938374G>C (hg19) ; chr11:g.34916827G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916827G>C , CM000673.2:g.34916827G>C	GRCh38
NC_000011.9:g.34938374G>C , CM000673.1:g.34938374G>C	GRCh37
NC_000011.8:g.34894950G>C	NCBI36
NG_013368.1:g.5698G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+341G>C	ENSP00000389404.3:n.-21+341G>C
ENST00000227868.9:c.160+12G>C MANE Select	ENSP00000227868.4:n.160+12G>C
ENST00000227868.8:c.160+12G>C	ENSP00000227868.4:n.160+12G>C
ENST00000430469.6:c.160+12G>C	ENSP00000415695.2:n.160+12G>C
ENST00000448838.7:c.115+341G>C	ENSP00000389404.2:n.115+341G>C
ENST00000533262.1:c.160+12G>C	ENSP00000432277.1:n.160+12G>C
ENST00000533550.5:c.-21+889G>C	ENSP00000431281.1:n.-21+889G>C
NM_001135024.1:c.115+341G>C	NP_001128496.1:n.115+341G>C
NM_001166158.1:c.160+12G>C	NP_001159630.1:n.160+12G>C
NM_003477.2:c.160+12G>C	NP_003468.2:n.160+12G>C
XM_011520390.1:c.-21+889G>C	XP_011518692.1:n.-21+889G>C
NM_003477.3:c.160+12G>C MANE Select	NP_003468.2:n.160+12G>C
NM_001135024.2:c.-21+341G>C	NP_001128496.2:n.-21+341G>C
NM_001166158.2:c.160+12G>C	NP_001159630.1:n.160+12G>C