Canonical Allele Identifier: CA515486464

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377717A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359599A>T , CM000685.2:g.19359599A>T	GRCh38
NC_000023.10:g.19377717A>T , CM000685.1:g.19377717A>T	GRCh37
NC_000023.9:g.19287638A>T	NCBI36
NG_016781.1:g.20707A>T
NG_021184.1:g.160663T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1140A>T	ENSP00000348062.6:p.Pro380=
ENST00000379805.4:c.*811A>T	ENSP00000369133.3:n.*811A>T
ENST00000417819.6:c.1203A>T	ENSP00000404616.2:p.Pro401=
ENST00000423505.6:c.1233A>T	ENSP00000406473.2:p.Pro411=
ENST00000481733.2:n.914A>T
ENST00000696704.1:c.*451A>T	ENSP00000512823.1:n.*451A>T
ENST00000696705.1:c.*574A>T	ENSP00000512824.1:n.*574A>T
ENST00000422285.7:c.1119A>T MANE Select	ENSP00000394382.2:p.Pro373=
ENST00000379804.1:c.276A>T	ENSP00000369132.1:p.Pro92=
ENST00000379806.9:c.1233A>T	ENSP00000369134.5:p.Pro411=
ENST00000422285.6:c.1119A>T	ENSP00000394382.2:p.Pro373=
ENST00000478795.1:n.558A>T
ENST00000540249.5:c.1026A>T	ENSP00000440761.1:p.Pro342=
ENST00000545074.5:c.1140A>T	ENSP00000438550.1:p.Pro380=
NM_000284.3:c.1119A>T	NP_000275.1:p.Pro373=
NM_001173454.1:c.1233A>T	NP_001166925.1:p.Pro411=
NM_001173455.1:c.1140A>T	NP_001166926.1:p.Pro380=
NM_001173456.1:c.1026A>T	NP_001166927.1:p.Pro342=
XM_011545531.1:c.1254A>T	XP_011543833.1:p.Pro418=
XM_011545532.1:c.1161A>T	XP_011543834.1:p.Pro387=
XM_017029574.2:c.1140A>T	XP_016885063.1:p.Pro380=
NM_000284.4:c.1119A>T MANE Select	NP_000275.1:p.Pro373=
NM_001173454.2:c.1233A>T	NP_001166925.1:p.Pro411=
NM_001173455.2:c.1140A>T	NP_001166926.1:p.Pro380=
NM_001173456.2:c.1026A>T	NP_001166927.1:p.Pro342=