Canonical Allele Identifier: CA412394224

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373468G>A (hg19) ; chrX:g.19355350G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355350G>A , CM000685.2:g.19355350G>A	GRCh38
NC_000023.10:g.19373468G>A , CM000685.1:g.19373468G>A	GRCh37
NC_000023.9:g.19283389G>A	NCBI36
NG_016781.1:g.16458G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.626G>A	ENSP00000348062.6:p.Gly209Asp
ENST00000379805.4:c.*297G>A	ENSP00000369133.3:n.*297G>A
ENST00000417819.6:c.689G>A	ENSP00000404616.2:p.Gly230Asp
ENST00000423505.6:c.719G>A	ENSP00000406473.2:p.Gly240Asp
ENST00000481733.2:n.400G>A
ENST00000696704.1:c.420G>A	ENSP00000512823.1:p.Gly140=
ENST00000696705.1:c.*60G>A	ENSP00000512824.1:n.*60G>A
ENST00000422285.7:c.605G>A MANE Select	ENSP00000394382.2:p.Gly202Asp
ENST00000379806.9:c.719G>A	ENSP00000369134.5:p.Gly240Asp
ENST00000422285.6:c.605G>A	ENSP00000394382.2:p.Gly202Asp
ENST00000479146.1:n.440G>A
ENST00000481733.1:n.33G>A
ENST00000540249.5:c.512G>A	ENSP00000440761.1:p.Gly171Asp
ENST00000545074.5:c.626G>A	ENSP00000438550.1:p.Gly209Asp
NM_000284.3:c.605G>A	NP_000275.1:p.Gly202Asp
NM_001173454.1:c.719G>A	NP_001166925.1:p.Gly240Asp
NM_001173455.1:c.626G>A	NP_001166926.1:p.Gly209Asp
NM_001173456.1:c.512G>A	NP_001166927.1:p.Gly171Asp
XM_011545531.1:c.740G>A	XP_011543833.1:p.Gly247Asp
XM_011545532.1:c.647G>A	XP_011543834.1:p.Gly216Asp
XM_017029574.2:c.626G>A	XP_016885063.1:p.Gly209Asp
NM_000284.4:c.605G>A MANE Select	NP_000275.1:p.Gly202Asp
NM_001173454.2:c.719G>A	NP_001166925.1:p.Gly240Asp
NM_001173455.2:c.626G>A	NP_001166926.1:p.Gly209Asp
NM_001173456.2:c.512G>A	NP_001166927.1:p.Gly171Asp