Canonical Allele Identifier: CA515486400

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377139A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359021A>T , CM000685.2:g.19359021A>T	GRCh38
NC_000023.10:g.19377139A>T , CM000685.1:g.19377139A>T	GRCh37
NC_000023.9:g.19287060A>T	NCBI36
NG_016781.1:g.20129A>T
NG_021184.1:g.161241T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1026A>T	ENSP00000348062.6:p.Leu342=
ENST00000379805.4:c.*697A>T	ENSP00000369133.3:n.*697A>T
ENST00000417819.6:c.1089A>T	ENSP00000404616.2:p.Leu363=
ENST00000423505.6:c.1119A>T	ENSP00000406473.2:p.Leu373=
ENST00000481733.2:n.800A>T
ENST00000696704.1:c.*337A>T	ENSP00000512823.1:n.*337A>T
ENST00000696705.1:c.*460A>T	ENSP00000512824.1:n.*460A>T
ENST00000422285.7:c.1005A>T MANE Select	ENSP00000394382.2:p.Leu335=
ENST00000379804.1:c.162A>T	ENSP00000369132.1:p.Leu54=
ENST00000379806.9:c.1119A>T	ENSP00000369134.5:p.Leu373=
ENST00000422285.6:c.1005A>T	ENSP00000394382.2:p.Leu335=
ENST00000478795.1:n.444A>T
ENST00000481733.1:n.433A>T
ENST00000540249.5:c.912A>T	ENSP00000440761.1:p.Leu304=
ENST00000545074.5:c.1026A>T	ENSP00000438550.1:p.Leu342=
NM_000284.3:c.1005A>T	NP_000275.1:p.Leu335=
NM_001173454.1:c.1119A>T	NP_001166925.1:p.Leu373=
NM_001173455.1:c.1026A>T	NP_001166926.1:p.Leu342=
NM_001173456.1:c.912A>T	NP_001166927.1:p.Leu304=
XM_011545531.1:c.1140A>T	XP_011543833.1:p.Leu380=
XM_011545532.1:c.1047A>T	XP_011543834.1:p.Leu349=
XM_017029574.2:c.1026A>T	XP_016885063.1:p.Leu342=
NM_000284.4:c.1005A>T MANE Select	NP_000275.1:p.Leu335=
NM_001173454.2:c.1119A>T	NP_001166925.1:p.Leu373=
NM_001173455.2:c.1026A>T	NP_001166926.1:p.Leu342=
NM_001173456.2:c.912A>T	NP_001166927.1:p.Leu304=