Canonical Allele Identifier: CA515486296

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377055T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358937T>A , CM000685.2:g.19358937T>A	GRCh38
NC_000023.10:g.19377055T>A , CM000685.1:g.19377055T>A	GRCh37
NC_000023.9:g.19286976T>A	NCBI36
NG_016781.1:g.20045T>A
NG_021184.1:g.161325A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.942T>A	ENSP00000348062.6:p.Ile314=
ENST00000379805.4:c.*613T>A	ENSP00000369133.3:n.*613T>A
ENST00000417819.6:c.1005T>A	ENSP00000404616.2:p.Ile335=
ENST00000423505.6:c.1035T>A	ENSP00000406473.2:p.Ile345=
ENST00000481733.2:n.716T>A
ENST00000696704.1:c.*253T>A	ENSP00000512823.1:n.*253T>A
ENST00000696705.1:c.*376T>A	ENSP00000512824.1:n.*376T>A
ENST00000422285.7:c.921T>A MANE Select	ENSP00000394382.2:p.Ile307=
ENST00000379804.1:c.78T>A	ENSP00000369132.1:p.Ile26=
ENST00000379806.9:c.1035T>A	ENSP00000369134.5:p.Ile345=
ENST00000422285.6:c.921T>A	ENSP00000394382.2:p.Ile307=
ENST00000478795.1:n.360T>A
ENST00000481733.1:n.349T>A
ENST00000540249.5:c.828T>A	ENSP00000440761.1:p.Ile276=
ENST00000545074.5:c.942T>A	ENSP00000438550.1:p.Ile314=
NM_000284.3:c.921T>A	NP_000275.1:p.Ile307=
NM_001173454.1:c.1035T>A	NP_001166925.1:p.Ile345=
NM_001173455.1:c.942T>A	NP_001166926.1:p.Ile314=
NM_001173456.1:c.828T>A	NP_001166927.1:p.Ile276=
XM_011545531.1:c.1056T>A	XP_011543833.1:p.Ile352=
XM_011545532.1:c.963T>A	XP_011543834.1:p.Ile321=
XM_017029574.2:c.942T>A	XP_016885063.1:p.Ile314=
NM_000284.4:c.921T>A MANE Select	NP_000275.1:p.Ile307=
NM_001173454.2:c.1035T>A	NP_001166925.1:p.Ile345=
NM_001173455.2:c.942T>A	NP_001166926.1:p.Ile314=
NM_001173456.2:c.828T>A	NP_001166927.1:p.Ile276=