Canonical Allele Identifier: CA473615537

Gene: PDHX

Linked Data

• dbSNP Id: rs1279247686
• gnomAD v2: 11-34938349-G-A
• gnomAD v3: 11-34916802-G-A
• gnomAD v4: 11-34916802-G-A
• MyVariant Identifiers: chr11:g.34938349G>A (hg19) ; chr11:g.34916802G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916802G>A , CM000673.2:g.34916802G>A	GRCh38
NC_000011.9:g.34938349G>A , CM000673.1:g.34938349G>A	GRCh37
NC_000011.8:g.34894925G>A	NCBI36
NG_013368.1:g.5673G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+316G>A	ENSP00000389404.3:n.-21+316G>A
ENST00000227868.9:c.147G>A MANE Select	ENSP00000227868.4:p.Thr49=
ENST00000227868.8:c.147G>A	ENSP00000227868.4:p.Thr49=
ENST00000430469.6:c.147G>A	ENSP00000415695.2:p.Thr49=
ENST00000448838.7:c.115+316G>A	ENSP00000389404.2:n.115+316G>A
ENST00000533262.1:c.147G>A	ENSP00000432277.1:p.Thr49=
ENST00000533550.5:c.-21+864G>A	ENSP00000431281.1:n.-21+864G>A
NM_001135024.1:c.115+316G>A	NP_001128496.1:n.115+316G>A
NM_001166158.1:c.147G>A	NP_001159630.1:p.Thr49=
NM_003477.2:c.147G>A	NP_003468.2:p.Thr49=
XM_011520390.1:c.-21+864G>A	XP_011518692.1:n.-21+864G>A
NM_003477.3:c.147G>A MANE Select	NP_003468.2:p.Thr49=
NM_001135024.2:c.-21+316G>A	NP_001128496.2:n.-21+316G>A
NM_001166158.2:c.147G>A	NP_001159630.1:p.Thr49=