Canonical Allele Identifier: CA412394537

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373549T>A (hg19) ; chrX:g.19355431T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355431T>A , CM000685.2:g.19355431T>A	GRCh38
NC_000023.10:g.19373549T>A , CM000685.1:g.19373549T>A	GRCh37
NC_000023.9:g.19283470T>A	NCBI36
NG_016781.1:g.16539T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.707T>A	ENSP00000348062.6:p.Met236Lys
ENST00000379805.4:c.*378T>A	ENSP00000369133.3:n.*378T>A
ENST00000417819.6:c.770T>A	ENSP00000404616.2:p.Met257Lys
ENST00000423505.6:c.800T>A	ENSP00000406473.2:p.Met267Lys
ENST00000481733.2:n.481T>A
ENST00000696704.1:c.*18T>A	ENSP00000512823.1:n.*18T>A
ENST00000696705.1:c.*141T>A	ENSP00000512824.1:n.*141T>A
ENST00000422285.7:c.686T>A MANE Select	ENSP00000394382.2:p.Met229Lys
ENST00000379806.9:c.800T>A	ENSP00000369134.5:p.Met267Lys
ENST00000422285.6:c.686T>A	ENSP00000394382.2:p.Met229Lys
ENST00000479146.1:n.521T>A
ENST00000481733.1:n.114T>A
ENST00000540249.5:c.593T>A	ENSP00000440761.1:p.Met198Lys
ENST00000545074.5:c.707T>A	ENSP00000438550.1:p.Met236Lys
NM_000284.3:c.686T>A	NP_000275.1:p.Met229Lys
NM_001173454.1:c.800T>A	NP_001166925.1:p.Met267Lys
NM_001173455.1:c.707T>A	NP_001166926.1:p.Met236Lys
NM_001173456.1:c.593T>A	NP_001166927.1:p.Met198Lys
XM_011545531.1:c.821T>A	XP_011543833.1:p.Met274Lys
XM_011545532.1:c.728T>A	XP_011543834.1:p.Met243Lys
XM_017029574.2:c.707T>A	XP_016885063.1:p.Met236Lys
NM_000284.4:c.686T>A MANE Select	NP_000275.1:p.Met229Lys
NM_001173454.2:c.800T>A	NP_001166925.1:p.Met267Lys
NM_001173455.2:c.707T>A	NP_001166926.1:p.Met236Lys
NM_001173456.2:c.593T>A	NP_001166927.1:p.Met198Lys