Canonical Allele Identifier: CA515486333

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377082T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358964T>G , CM000685.2:g.19358964T>G	GRCh38
NC_000023.10:g.19377082T>G , CM000685.1:g.19377082T>G	GRCh37
NC_000023.9:g.19287003T>G	NCBI36
NG_016781.1:g.20072T>G
NG_021184.1:g.161298A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.969T>G	ENSP00000348062.6:p.Pro323=
ENST00000379805.4:c.*640T>G	ENSP00000369133.3:n.*640T>G
ENST00000417819.6:c.1032T>G	ENSP00000404616.2:p.Pro344=
ENST00000423505.6:c.1062T>G	ENSP00000406473.2:p.Pro354=
ENST00000481733.2:n.743T>G
ENST00000696704.1:c.*280T>G	ENSP00000512823.1:n.*280T>G
ENST00000696705.1:c.*403T>G	ENSP00000512824.1:n.*403T>G
ENST00000422285.7:c.948T>G MANE Select	ENSP00000394382.2:p.Pro316=
ENST00000379804.1:c.105T>G	ENSP00000369132.1:p.Pro35=
ENST00000379806.9:c.1062T>G	ENSP00000369134.5:p.Pro354=
ENST00000422285.6:c.948T>G	ENSP00000394382.2:p.Pro316=
ENST00000478795.1:n.387T>G
ENST00000481733.1:n.376T>G
ENST00000540249.5:c.855T>G	ENSP00000440761.1:p.Pro285=
ENST00000545074.5:c.969T>G	ENSP00000438550.1:p.Pro323=
NM_000284.3:c.948T>G	NP_000275.1:p.Pro316=
NM_001173454.1:c.1062T>G	NP_001166925.1:p.Pro354=
NM_001173455.1:c.969T>G	NP_001166926.1:p.Pro323=
NM_001173456.1:c.855T>G	NP_001166927.1:p.Pro285=
XM_011545531.1:c.1083T>G	XP_011543833.1:p.Pro361=
XM_011545532.1:c.990T>G	XP_011543834.1:p.Pro330=
XM_017029574.2:c.969T>G	XP_016885063.1:p.Pro323=
NM_000284.4:c.948T>G MANE Select	NP_000275.1:p.Pro316=
NM_001173454.2:c.1062T>G	NP_001166925.1:p.Pro354=
NM_001173455.2:c.969T>G	NP_001166926.1:p.Pro323=
NM_001173456.2:c.855T>G	NP_001166927.1:p.Pro285=