Canonical Allele Identifier: CA412394326

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373488A>T (hg19) ; chrX:g.19355370A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355370A>T , CM000685.2:g.19355370A>T	GRCh38
NC_000023.10:g.19373488A>T , CM000685.1:g.19373488A>T	GRCh37
NC_000023.9:g.19283409A>T	NCBI36
NG_016781.1:g.16478A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.646A>T	ENSP00000348062.6:p.Asn216Tyr
ENST00000379805.4:c.*317A>T	ENSP00000369133.3:n.*317A>T
ENST00000417819.6:c.709A>T	ENSP00000404616.2:p.Asn237Tyr
ENST00000423505.6:c.739A>T	ENSP00000406473.2:p.Asn247Tyr
ENST00000481733.2:n.420A>T
ENST00000696704.1:c.440A>T	ENSP00000512823.1:p.Gln147Leu
ENST00000696705.1:c.*80A>T	ENSP00000512824.1:n.*80A>T
ENST00000422285.7:c.625A>T MANE Select	ENSP00000394382.2:p.Asn209Tyr
ENST00000379806.9:c.739A>T	ENSP00000369134.5:p.Asn247Tyr
ENST00000422285.6:c.625A>T	ENSP00000394382.2:p.Asn209Tyr
ENST00000479146.1:n.460A>T
ENST00000481733.1:n.53A>T
ENST00000540249.5:c.532A>T	ENSP00000440761.1:p.Asn178Tyr
ENST00000545074.5:c.646A>T	ENSP00000438550.1:p.Asn216Tyr
NM_000284.3:c.625A>T	NP_000275.1:p.Asn209Tyr
NM_001173454.1:c.739A>T	NP_001166925.1:p.Asn247Tyr
NM_001173455.1:c.646A>T	NP_001166926.1:p.Asn216Tyr
NM_001173456.1:c.532A>T	NP_001166927.1:p.Asn178Tyr
XM_011545531.1:c.760A>T	XP_011543833.1:p.Asn254Tyr
XM_011545532.1:c.667A>T	XP_011543834.1:p.Asn223Tyr
XM_017029574.2:c.646A>T	XP_016885063.1:p.Asn216Tyr
NM_000284.4:c.625A>T MANE Select	NP_000275.1:p.Asn209Tyr
NM_001173454.2:c.739A>T	NP_001166925.1:p.Asn247Tyr
NM_001173455.2:c.646A>T	NP_001166926.1:p.Asn216Tyr
NM_001173456.2:c.532A>T	NP_001166927.1:p.Asn178Tyr