Canonical Allele Identifier: CA515486095

Gene: PDHA1

Linked Data

• gnomAD v4: X-19355713-C-A
• MyVariant Identifiers: chrX:g.19373831C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355713C>A , CM000685.2:g.19355713C>A	GRCh38
NC_000023.10:g.19373831C>A , CM000685.1:g.19373831C>A	GRCh37
NC_000023.9:g.19283752C>A	NCBI36
NG_016781.1:g.16821C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.808C>A	ENSP00000348062.6:p.Arg270=
ENST00000379805.4:c.*479C>A	ENSP00000369133.3:n.*479C>A
ENST00000417819.6:c.871C>A	ENSP00000404616.2:p.Arg291=
ENST00000423505.6:c.901C>A	ENSP00000406473.2:p.Arg301=
ENST00000481733.2:n.582C>A
ENST00000696704.1:c.*119C>A	ENSP00000512823.1:n.*119C>A
ENST00000696705.1:c.*242C>A	ENSP00000512824.1:n.*242C>A
ENST00000422285.7:c.787C>A MANE Select	ENSP00000394382.2:p.Arg263=
ENST00000379804.1:c.-57C>A	ENSP00000369132.1:n.-57C>A
ENST00000379806.9:c.901C>A	ENSP00000369134.5:p.Arg301=
ENST00000422285.6:c.787C>A	ENSP00000394382.2:p.Arg263=
ENST00000481733.1:n.215C>A
ENST00000540249.5:c.694C>A	ENSP00000440761.1:p.Arg232=
ENST00000545074.5:c.808C>A	ENSP00000438550.1:p.Arg270=
NM_000284.3:c.787C>A	NP_000275.1:p.Arg263=
NM_001173454.1:c.901C>A	NP_001166925.1:p.Arg301=
NM_001173455.1:c.808C>A	NP_001166926.1:p.Arg270=
NM_001173456.1:c.694C>A	NP_001166927.1:p.Arg232=
XM_011545531.1:c.922C>A	XP_011543833.1:p.Arg308=
XM_011545532.1:c.829C>A	XP_011543834.1:p.Arg277=
XM_017029574.2:c.808C>A	XP_016885063.1:p.Arg270=
NM_000284.4:c.787C>A MANE Select	NP_000275.1:p.Arg263=
NM_001173454.2:c.901C>A	NP_001166925.1:p.Arg301=
NM_001173455.2:c.808C>A	NP_001166926.1:p.Arg270=
NM_001173456.2:c.694C>A	NP_001166927.1:p.Arg232=