Canonical Allele Identifier: CA380123948

Gene: PDHX

Linked Data

• gnomAD v4: 11-34916768-G-C
• MyVariant Identifiers: chr11:g.34938315G>C (hg19) ; chr11:g.34916768G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916768G>C , CM000673.2:g.34916768G>C	GRCh38
NC_000011.9:g.34938315G>C , CM000673.1:g.34938315G>C	GRCh37
NC_000011.8:g.34894891G>C	NCBI36
NG_013368.1:g.5639G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+282G>C	ENSP00000389404.3:n.-21+282G>C
ENST00000227868.9:c.113G>C MANE Select	ENSP00000227868.4:p.Ser38Thr
ENST00000227868.8:c.113G>C	ENSP00000227868.4:p.Ser38Thr
ENST00000430469.6:c.113G>C	ENSP00000415695.2:p.Ser38Thr
ENST00000448838.7:c.115+282G>C	ENSP00000389404.2:n.115+282G>C
ENST00000533262.1:c.113G>C	ENSP00000432277.1:p.Ser38Thr
ENST00000533550.5:c.-21+830G>C	ENSP00000431281.1:n.-21+830G>C
NM_001135024.1:c.115+282G>C	NP_001128496.1:n.115+282G>C
NM_001166158.1:c.113G>C	NP_001159630.1:p.Ser38Thr
NM_003477.2:c.113G>C	NP_003468.2:p.Ser38Thr
XM_011520390.1:c.-21+830G>C	XP_011518692.1:n.-21+830G>C
NM_003477.3:c.113G>C MANE Select	NP_003468.2:p.Ser38Thr
NM_001135024.2:c.-21+282G>C	NP_001128496.2:n.-21+282G>C
NM_001166158.2:c.113G>C	NP_001159630.1:p.Ser38Thr