Canonical Allele Identifier: CA412394692

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373618T>A (hg19) ; chrX:g.19355500T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355500T>A , CM000685.2:g.19355500T>A	GRCh38
NC_000023.10:g.19373618T>A , CM000685.1:g.19373618T>A	GRCh37
NC_000023.9:g.19283539T>A	NCBI36
NG_016781.1:g.16608T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.776T>A	ENSP00000348062.6:p.Leu259Gln
ENST00000379805.4:c.*447T>A	ENSP00000369133.3:n.*447T>A
ENST00000417819.6:c.839T>A	ENSP00000404616.2:p.Leu280Gln
ENST00000423505.6:c.869T>A	ENSP00000406473.2:p.Leu290Gln
ENST00000481733.2:n.550T>A
ENST00000696704.1:c.*87T>A	ENSP00000512823.1:n.*87T>A
ENST00000696705.1:c.*210T>A	ENSP00000512824.1:n.*210T>A
ENST00000422285.7:c.755T>A MANE Select	ENSP00000394382.2:p.Leu252Gln
ENST00000379806.9:c.869T>A	ENSP00000369134.5:p.Leu290Gln
ENST00000422285.6:c.755T>A	ENSP00000394382.2:p.Leu252Gln
ENST00000481733.1:n.183T>A
ENST00000540249.5:c.662T>A	ENSP00000440761.1:p.Leu221Gln
ENST00000545074.5:c.776T>A	ENSP00000438550.1:p.Leu259Gln
NM_000284.3:c.755T>A	NP_000275.1:p.Leu252Gln
NM_001173454.1:c.869T>A	NP_001166925.1:p.Leu290Gln
NM_001173455.1:c.776T>A	NP_001166926.1:p.Leu259Gln
NM_001173456.1:c.662T>A	NP_001166927.1:p.Leu221Gln
XM_011545531.1:c.890T>A	XP_011543833.1:p.Leu297Gln
XM_011545532.1:c.797T>A	XP_011543834.1:p.Leu266Gln
XM_017029574.2:c.776T>A	XP_016885063.1:p.Leu259Gln
NM_000284.4:c.755T>A MANE Select	NP_000275.1:p.Leu252Gln
NM_001173454.2:c.869T>A	NP_001166925.1:p.Leu290Gln
NM_001173455.2:c.776T>A	NP_001166926.1:p.Leu259Gln
NM_001173456.2:c.662T>A	NP_001166927.1:p.Leu221Gln