Canonical Allele Identifier: CA220478834

Gene: PDHX

Linked Data

• dbSNP Id: rs1047751954
• MyVariant Identifiers: chr11:g.35017414T>C (hg19) ; chr11:g.34995867T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34995867T>C , CM000673.2:g.34995867T>C	GRCh38
NC_000011.9:g.35017414T>C , CM000673.1:g.35017414T>C	GRCh37
NC_000011.8:g.34973990T>C	NCBI36
NG_013368.1:g.84738T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.*695T>C	ENSP00000389404.3:n.*695T>C
ENST00000227868.9:c.*695T>C MANE Select	ENSP00000227868.4:n.*695T>C
ENST00000227868.8:c.*695T>C	ENSP00000227868.4:n.*695T>C
ENST00000448838.7:c.*695T>C	ENSP00000389404.2:n.*695T>C
ENST00000477173.3:n.161+3488T>C
NM_001135024.1:c.*695T>C	NP_001128496.1:n.*695T>C
NM_001166158.1:c.*695T>C	NP_001159630.1:n.*695T>C
NM_003477.2:c.*695T>C	NP_003468.2:n.*695T>C
XM_011520390.1:c.*695T>C	XP_011518692.1:n.*695T>C
NM_003477.3:c.*695T>C MANE Select	NP_003468.2:n.*695T>C
NM_001135024.2:c.*695T>C	NP_001128496.2:n.*695T>C
NM_001166158.2:c.*695T>C	NP_001159630.1:n.*695T>C