Canonical Allele Identifier: CA412394746

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373818T>G (hg19) ; chrX:g.19355700T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355700T>G , CM000685.2:g.19355700T>G	GRCh38
NC_000023.10:g.19373818T>G , CM000685.1:g.19373818T>G	GRCh37
NC_000023.9:g.19283739T>G	NCBI36
NG_016781.1:g.16808T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.795T>G	ENSP00000348062.6:p.Asp265Glu
ENST00000379805.4:c.*466T>G	ENSP00000369133.3:n.*466T>G
ENST00000417819.6:c.858T>G	ENSP00000404616.2:p.Asp286Glu
ENST00000423505.6:c.888T>G	ENSP00000406473.2:p.Asp296Glu
ENST00000481733.2:n.569T>G
ENST00000696704.1:c.*106T>G	ENSP00000512823.1:n.*106T>G
ENST00000696705.1:c.*229T>G	ENSP00000512824.1:n.*229T>G
ENST00000422285.7:c.774T>G MANE Select	ENSP00000394382.2:p.Asp258Glu
ENST00000379804.1:c.-70T>G	ENSP00000369132.1:n.-70T>G
ENST00000379806.9:c.888T>G	ENSP00000369134.5:p.Asp296Glu
ENST00000422285.6:c.774T>G	ENSP00000394382.2:p.Asp258Glu
ENST00000481733.1:n.202T>G
ENST00000540249.5:c.681T>G	ENSP00000440761.1:p.Asp227Glu
ENST00000545074.5:c.795T>G	ENSP00000438550.1:p.Asp265Glu
NM_000284.3:c.774T>G	NP_000275.1:p.Asp258Glu
NM_001173454.1:c.888T>G	NP_001166925.1:p.Asp296Glu
NM_001173455.1:c.795T>G	NP_001166926.1:p.Asp265Glu
NM_001173456.1:c.681T>G	NP_001166927.1:p.Asp227Glu
XM_011545531.1:c.909T>G	XP_011543833.1:p.Asp303Glu
XM_011545532.1:c.816T>G	XP_011543834.1:p.Asp272Glu
XM_017029574.2:c.795T>G	XP_016885063.1:p.Asp265Glu
NM_000284.4:c.774T>G MANE Select	NP_000275.1:p.Asp258Glu
NM_001173454.2:c.888T>G	NP_001166925.1:p.Asp296Glu
NM_001173455.2:c.795T>G	NP_001166926.1:p.Asp265Glu
NM_001173456.2:c.681T>G	NP_001166927.1:p.Asp227Glu