Canonical Allele Identifier: CA5945699

Gene: PDHX

Linked Data

• dbSNP Id: rs774021266
• ExAC: 11:34938170 G / A
• gnomAD v2: 11-34938170-G-A
• gnomAD v4: 11-34916623-G-A
• MyVariant Identifiers: chr11:g.34938170G>A (hg19) ; chr11:g.34916623G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916623G>A , CM000673.2:g.34916623G>A	GRCh38
NC_000011.9:g.34938170G>A , CM000673.1:g.34938170G>A	GRCh37
NC_000011.8:g.34894746G>A	NCBI36
NG_013368.1:g.5494G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000448838.8:c.-21+137G>A	ENSP00000389404.3:n.-21+137G>A
ENST00000227868.9:c.-33G>A MANE Select	ENSP00000227868.4:n.-33G>A
ENST00000227868.8:c.-33G>A	ENSP00000227868.4:n.-33G>A
ENST00000448838.7:c.115+137G>A	ENSP00000389404.2:n.115+137G>A
ENST00000533550.5:c.-21+685G>A	ENSP00000431281.1:n.-21+685G>A
NM_001135024.1:c.115+137G>A	NP_001128496.1:n.115+137G>A
NM_001166158.1:c.-33G>A	NP_001159630.1:n.-33G>A
NM_003477.2:c.-33G>A	NP_003468.2:n.-33G>A
XM_011520390.1:c.-21+685G>A	XP_011518692.1:n.-21+685G>A
NM_003477.3:c.-33G>A MANE Select	NP_003468.2:n.-33G>A
NM_001135024.2:c.-21+137G>A	NP_001128496.2:n.-21+137G>A
NM_001166158.2:c.-33G>A	NP_001159630.1:n.-33G>A