Canonical Allele Identifier: CA515486481

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377738C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359620C>A , CM000685.2:g.19359620C>A	GRCh38
NC_000023.10:g.19377738C>A , CM000685.1:g.19377738C>A	GRCh37
NC_000023.9:g.19287659C>A	NCBI36
NG_016781.1:g.20728C>A
NG_021184.1:g.160642G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1161C>A	ENSP00000348062.6:p.Ala387=
ENST00000379805.4:c.*832C>A	ENSP00000369133.3:n.*832C>A
ENST00000417819.6:c.1224C>A	ENSP00000404616.2:p.Ala408=
ENST00000423505.6:c.1254C>A	ENSP00000406473.2:p.Ala418=
ENST00000481733.2:n.935C>A
ENST00000696704.1:c.*472C>A	ENSP00000512823.1:n.*472C>A
ENST00000696705.1:c.*595C>A	ENSP00000512824.1:n.*595C>A
ENST00000422285.7:c.1140C>A MANE Select	ENSP00000394382.2:p.Ala380=
ENST00000379804.1:c.297C>A	ENSP00000369132.1:p.Ala99=
ENST00000379806.9:c.1254C>A	ENSP00000369134.5:p.Ala418=
ENST00000422285.6:c.1140C>A	ENSP00000394382.2:p.Ala380=
ENST00000478795.1:n.579C>A
ENST00000540249.5:c.1047C>A	ENSP00000440761.1:p.Ala349=
ENST00000545074.5:c.1161C>A	ENSP00000438550.1:p.Ala387=
NM_000284.3:c.1140C>A	NP_000275.1:p.Ala380=
NM_001173454.1:c.1254C>A	NP_001166925.1:p.Ala418=
NM_001173455.1:c.1161C>A	NP_001166926.1:p.Ala387=
NM_001173456.1:c.1047C>A	NP_001166927.1:p.Ala349=
XM_011545531.1:c.1275C>A	XP_011543833.1:p.Ala425=
XM_011545532.1:c.1182C>A	XP_011543834.1:p.Ala394=
XM_017029574.2:c.1161C>A	XP_016885063.1:p.Ala387=
NM_000284.4:c.1140C>A MANE Select	NP_000275.1:p.Ala380=
NM_001173454.2:c.1254C>A	NP_001166925.1:p.Ala418=
NM_001173455.2:c.1161C>A	NP_001166926.1:p.Ala387=
NM_001173456.2:c.1047C>A	NP_001166927.1:p.Ala349=