Canonical Allele Identifier: CA515486224

Gene: PDHA1

Linked Data

• gnomAD v4: X-19357717-C-A
• MyVariant Identifiers: chrX:g.19375835C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357717C>A , CM000685.2:g.19357717C>A	GRCh38
NC_000023.10:g.19375835C>A , CM000685.1:g.19375835C>A	GRCh37
NC_000023.9:g.19285756C>A	NCBI36
NG_016781.1:g.18825C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.918C>A	ENSP00000348062.6:p.Val306=
ENST00000379805.4:c.*589C>A	ENSP00000369133.3:n.*589C>A
ENST00000417819.6:c.981C>A	ENSP00000404616.2:p.Val327=
ENST00000423505.6:c.1011C>A	ENSP00000406473.2:p.Val337=
ENST00000481733.2:n.692C>A
ENST00000696704.1:c.*229C>A	ENSP00000512823.1:n.*229C>A
ENST00000696705.1:c.*352C>A	ENSP00000512824.1:n.*352C>A
ENST00000422285.7:c.897C>A MANE Select	ENSP00000394382.2:p.Val299=
ENST00000379804.1:c.54C>A	ENSP00000369132.1:p.Val18=
ENST00000379806.9:c.1011C>A	ENSP00000369134.5:p.Val337=
ENST00000422285.6:c.897C>A	ENSP00000394382.2:p.Val299=
ENST00000478795.1:n.336C>A
ENST00000481733.1:n.325C>A
ENST00000540249.5:c.804C>A	ENSP00000440761.1:p.Val268=
ENST00000545074.5:c.918C>A	ENSP00000438550.1:p.Val306=
NM_000284.3:c.897C>A	NP_000275.1:p.Val299=
NM_001173454.1:c.1011C>A	NP_001166925.1:p.Val337=
NM_001173455.1:c.918C>A	NP_001166926.1:p.Val306=
NM_001173456.1:c.804C>A	NP_001166927.1:p.Val268=
XM_011545531.1:c.1032C>A	XP_011543833.1:p.Val344=
XM_011545532.1:c.939C>A	XP_011543834.1:p.Val313=
XM_017029574.2:c.918C>A	XP_016885063.1:p.Val306=
NM_000284.4:c.897C>A MANE Select	NP_000275.1:p.Val299=
NM_001173454.2:c.1011C>A	NP_001166925.1:p.Val337=
NM_001173455.2:c.918C>A	NP_001166926.1:p.Val306=
NM_001173456.2:c.804C>A	NP_001166927.1:p.Val268=