Canonical Allele Identifier: CA412396176

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377086A>T (hg19) ; chrX:g.19358968A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358968A>T , CM000685.2:g.19358968A>T	GRCh38
NC_000023.10:g.19377086A>T , CM000685.1:g.19377086A>T	GRCh37
NC_000023.9:g.19287007A>T	NCBI36
NG_016781.1:g.20076A>T
NG_021184.1:g.161294T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.973A>T	ENSP00000348062.6:p.Met325Leu
ENST00000379805.4:c.*644A>T	ENSP00000369133.3:n.*644A>T
ENST00000417819.6:c.1036A>T	ENSP00000404616.2:p.Met346Leu
ENST00000423505.6:c.1066A>T	ENSP00000406473.2:p.Met356Leu
ENST00000481733.2:n.747A>T
ENST00000696704.1:c.*284A>T	ENSP00000512823.1:n.*284A>T
ENST00000696705.1:c.*407A>T	ENSP00000512824.1:n.*407A>T
ENST00000422285.7:c.952A>T MANE Select	ENSP00000394382.2:p.Met318Leu
ENST00000379804.1:c.109A>T	ENSP00000369132.1:p.Met37Leu
ENST00000379806.9:c.1066A>T	ENSP00000369134.5:p.Met356Leu
ENST00000422285.6:c.952A>T	ENSP00000394382.2:p.Met318Leu
ENST00000478795.1:n.391A>T
ENST00000481733.1:n.380A>T
ENST00000540249.5:c.859A>T	ENSP00000440761.1:p.Met287Leu
ENST00000545074.5:c.973A>T	ENSP00000438550.1:p.Met325Leu
NM_000284.3:c.952A>T	NP_000275.1:p.Met318Leu
NM_001173454.1:c.1066A>T	NP_001166925.1:p.Met356Leu
NM_001173455.1:c.973A>T	NP_001166926.1:p.Met325Leu
NM_001173456.1:c.859A>T	NP_001166927.1:p.Met287Leu
XM_011545531.1:c.1087A>T	XP_011543833.1:p.Met363Leu
XM_011545532.1:c.994A>T	XP_011543834.1:p.Met332Leu
XM_017029574.2:c.973A>T	XP_016885063.1:p.Met325Leu
NM_000284.4:c.952A>T MANE Select	NP_000275.1:p.Met318Leu
NM_001173454.2:c.1066A>T	NP_001166925.1:p.Met356Leu
NM_001173455.2:c.973A>T	NP_001166926.1:p.Met325Leu
NM_001173456.2:c.859A>T	NP_001166927.1:p.Met287Leu