Canonical Allele Identifier: CA515486217

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375829T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357711T>A , CM000685.2:g.19357711T>A	GRCh38
NC_000023.10:g.19375829T>A , CM000685.1:g.19375829T>A	GRCh37
NC_000023.9:g.19285750T>A	NCBI36
NG_016781.1:g.18819T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.912T>A	ENSP00000348062.6:p.Pro304=
ENST00000379805.4:c.*583T>A	ENSP00000369133.3:n.*583T>A
ENST00000417819.6:c.975T>A	ENSP00000404616.2:p.Pro325=
ENST00000423505.6:c.1005T>A	ENSP00000406473.2:p.Pro335=
ENST00000481733.2:n.686T>A
ENST00000696704.1:c.*223T>A	ENSP00000512823.1:n.*223T>A
ENST00000696705.1:c.*346T>A	ENSP00000512824.1:n.*346T>A
ENST00000422285.7:c.891T>A MANE Select	ENSP00000394382.2:p.Pro297=
ENST00000379804.1:c.48T>A	ENSP00000369132.1:p.Pro16=
ENST00000379806.9:c.1005T>A	ENSP00000369134.5:p.Pro335=
ENST00000422285.6:c.891T>A	ENSP00000394382.2:p.Pro297=
ENST00000478795.1:n.330T>A
ENST00000481733.1:n.319T>A
ENST00000540249.5:c.798T>A	ENSP00000440761.1:p.Pro266=
ENST00000545074.5:c.912T>A	ENSP00000438550.1:p.Pro304=
NM_000284.3:c.891T>A	NP_000275.1:p.Pro297=
NM_001173454.1:c.1005T>A	NP_001166925.1:p.Pro335=
NM_001173455.1:c.912T>A	NP_001166926.1:p.Pro304=
NM_001173456.1:c.798T>A	NP_001166927.1:p.Pro266=
XM_011545531.1:c.1026T>A	XP_011543833.1:p.Pro342=
XM_011545532.1:c.933T>A	XP_011543834.1:p.Pro311=
XM_017029574.2:c.912T>A	XP_016885063.1:p.Pro304=
NM_000284.4:c.891T>A MANE Select	NP_000275.1:p.Pro297=
NM_001173454.2:c.1005T>A	NP_001166925.1:p.Pro335=
NM_001173455.2:c.912T>A	NP_001166926.1:p.Pro304=
NM_001173456.2:c.798T>A	NP_001166927.1:p.Pro266=