Canonical Allele Identifier: CA10607080

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 291255
• ClinVar RCV Id: RCV000407596 ; RCV003225059
• dbSNP Id: rs886044701
• MyVariant Identifiers: chrX:g.19377643G>A (hg19) ; chrX:g.19359525G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359525G>A , CM000685.2:g.19359525G>A	GRCh38
NC_000023.10:g.19377643G>A , CM000685.1:g.19377643G>A	GRCh37
NC_000023.9:g.19287564G>A	NCBI36
NG_016781.1:g.20633G>A
NG_021184.1:g.160737C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1066G>A	ENSP00000348062.6:p.Ala356Thr
ENST00000379805.4:c.*737G>A	ENSP00000369133.3:n.*737G>A
ENST00000417819.6:c.1129G>A	ENSP00000404616.2:p.Ala377Thr
ENST00000423505.6:c.1159G>A	ENSP00000406473.2:p.Ala387Thr
ENST00000481733.2:n.840G>A
ENST00000696704.1:c.*377G>A	ENSP00000512823.1:n.*377G>A
ENST00000696705.1:c.*500G>A	ENSP00000512824.1:n.*500G>A
ENST00000422285.7:c.1045G>A MANE Select	ENSP00000394382.2:p.Ala349Thr
ENST00000379804.1:c.202G>A	ENSP00000369132.1:p.Ala68Thr
ENST00000379806.9:c.1159G>A	ENSP00000369134.5:p.Ala387Thr
ENST00000422285.6:c.1045G>A	ENSP00000394382.2:p.Ala349Thr
ENST00000478795.1:n.484G>A
ENST00000540249.5:c.952G>A	ENSP00000440761.1:p.Ala318Thr
ENST00000545074.5:c.1066G>A	ENSP00000438550.1:p.Ala356Thr
NM_000284.3:c.1045G>A	NP_000275.1:p.Ala349Thr
NM_001173454.1:c.1159G>A	NP_001166925.1:p.Ala387Thr
NM_001173455.1:c.1066G>A	NP_001166926.1:p.Ala356Thr
NM_001173456.1:c.952G>A	NP_001166927.1:p.Ala318Thr
XM_011545531.1:c.1180G>A	XP_011543833.1:p.Ala394Thr
XM_011545532.1:c.1087G>A	XP_011543834.1:p.Ala363Thr
XM_017029574.2:c.1066G>A	XP_016885063.1:p.Ala356Thr
NM_000284.4:c.1045G>A MANE Select	NP_000275.1:p.Ala349Thr
NM_001173454.2:c.1159G>A	NP_001166925.1:p.Ala387Thr
NM_001173455.2:c.1066G>A	NP_001166926.1:p.Ala356Thr
NM_001173456.2:c.952G>A	NP_001166927.1:p.Ala318Thr