Canonical Allele Identifier: CA412394415

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373507A>G (hg19) ; chrX:g.19355389A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355389A>G , CM000685.2:g.19355389A>G	GRCh38
NC_000023.10:g.19373507A>G , CM000685.1:g.19373507A>G	GRCh37
NC_000023.9:g.19283428A>G	NCBI36
NG_016781.1:g.16497A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.665A>G	ENSP00000348062.6:p.Lys222Arg
ENST00000379805.4:c.*336A>G	ENSP00000369133.3:n.*336A>G
ENST00000417819.6:c.728A>G	ENSP00000404616.2:p.Lys243Arg
ENST00000423505.6:c.758A>G	ENSP00000406473.2:p.Lys253Arg
ENST00000481733.2:n.439A>G
ENST00000696704.1:c.459A>G	ENSP00000512823.1:p.Glu153=
ENST00000696705.1:c.*99A>G	ENSP00000512824.1:n.*99A>G
ENST00000422285.7:c.644A>G MANE Select	ENSP00000394382.2:p.Lys215Arg
ENST00000379806.9:c.758A>G	ENSP00000369134.5:p.Lys253Arg
ENST00000422285.6:c.644A>G	ENSP00000394382.2:p.Lys215Arg
ENST00000479146.1:n.479A>G
ENST00000481733.1:n.72A>G
ENST00000540249.5:c.551A>G	ENSP00000440761.1:p.Lys184Arg
ENST00000545074.5:c.665A>G	ENSP00000438550.1:p.Lys222Arg
NM_000284.3:c.644A>G	NP_000275.1:p.Lys215Arg
NM_001173454.1:c.758A>G	NP_001166925.1:p.Lys253Arg
NM_001173455.1:c.665A>G	NP_001166926.1:p.Lys222Arg
NM_001173456.1:c.551A>G	NP_001166927.1:p.Lys184Arg
XM_011545531.1:c.779A>G	XP_011543833.1:p.Lys260Arg
XM_011545532.1:c.686A>G	XP_011543834.1:p.Lys229Arg
XM_017029574.2:c.665A>G	XP_016885063.1:p.Lys222Arg
NM_000284.4:c.644A>G MANE Select	NP_000275.1:p.Lys215Arg
NM_001173454.2:c.758A>G	NP_001166925.1:p.Lys253Arg
NM_001173455.2:c.665A>G	NP_001166926.1:p.Lys222Arg
NM_001173456.2:c.551A>G	NP_001166927.1:p.Lys184Arg