Canonical Allele Identifier: CA412394378

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373500T>A (hg19) ; chrX:g.19355382T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355382T>A , CM000685.2:g.19355382T>A	GRCh38
NC_000023.10:g.19373500T>A , CM000685.1:g.19373500T>A	GRCh37
NC_000023.9:g.19283421T>A	NCBI36
NG_016781.1:g.16490T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.658T>A	ENSP00000348062.6:p.Leu220Met
ENST00000379805.4:c.*329T>A	ENSP00000369133.3:n.*329T>A
ENST00000417819.6:c.721T>A	ENSP00000404616.2:p.Leu241Met
ENST00000423505.6:c.751T>A	ENSP00000406473.2:p.Leu251Met
ENST00000481733.2:n.432T>A
ENST00000696704.1:c.452T>A	ENSP00000512823.1:p.Phe151Tyr
ENST00000696705.1:c.*92T>A	ENSP00000512824.1:n.*92T>A
ENST00000422285.7:c.637T>A MANE Select	ENSP00000394382.2:p.Leu213Met
ENST00000379806.9:c.751T>A	ENSP00000369134.5:p.Leu251Met
ENST00000422285.6:c.637T>A	ENSP00000394382.2:p.Leu213Met
ENST00000479146.1:n.472T>A
ENST00000481733.1:n.65T>A
ENST00000540249.5:c.544T>A	ENSP00000440761.1:p.Leu182Met
ENST00000545074.5:c.658T>A	ENSP00000438550.1:p.Leu220Met
NM_000284.3:c.637T>A	NP_000275.1:p.Leu213Met
NM_001173454.1:c.751T>A	NP_001166925.1:p.Leu251Met
NM_001173455.1:c.658T>A	NP_001166926.1:p.Leu220Met
NM_001173456.1:c.544T>A	NP_001166927.1:p.Leu182Met
XM_011545531.1:c.772T>A	XP_011543833.1:p.Leu258Met
XM_011545532.1:c.679T>A	XP_011543834.1:p.Leu227Met
XM_017029574.2:c.658T>A	XP_016885063.1:p.Leu220Met
NM_000284.4:c.637T>A MANE Select	NP_000275.1:p.Leu213Met
NM_001173454.2:c.751T>A	NP_001166925.1:p.Leu251Met
NM_001173455.2:c.658T>A	NP_001166926.1:p.Leu220Met
NM_001173456.2:c.544T>A	NP_001166927.1:p.Leu182Met