Canonical Allele Identifier: CA412396037

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 689626
• ClinVar RCV Id: RCV000850376
• dbSNP Id: rs1602231489
• MyVariant Identifiers: chrX:g.19377041A>G (hg19) ; chrX:g.19358923A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358923A>G , CM000685.2:g.19358923A>G	GRCh38
NC_000023.10:g.19377041A>G , CM000685.1:g.19377041A>G	GRCh37
NC_000023.9:g.19286962A>G	NCBI36
NG_016781.1:g.20031A>G
NG_021184.1:g.161339T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.928A>G	ENSP00000348062.6:p.Thr310Ala
ENST00000379805.4:c.*599A>G	ENSP00000369133.3:n.*599A>G
ENST00000417819.6:c.991A>G	ENSP00000404616.2:p.Thr331Ala
ENST00000423505.6:c.1021A>G	ENSP00000406473.2:p.Thr341Ala
ENST00000481733.2:n.702A>G
ENST00000696704.1:c.*239A>G	ENSP00000512823.1:n.*239A>G
ENST00000696705.1:c.*362A>G	ENSP00000512824.1:n.*362A>G
ENST00000422285.7:c.907A>G MANE Select	ENSP00000394382.2:p.Thr303Ala
ENST00000379804.1:c.64A>G	ENSP00000369132.1:p.Thr22Ala
ENST00000379806.9:c.1021A>G	ENSP00000369134.5:p.Thr341Ala
ENST00000422285.6:c.907A>G	ENSP00000394382.2:p.Thr303Ala
ENST00000478795.1:n.346A>G
ENST00000481733.1:n.335A>G
ENST00000540249.5:c.814A>G	ENSP00000440761.1:p.Thr272Ala
ENST00000545074.5:c.928A>G	ENSP00000438550.1:p.Thr310Ala
NM_000284.3:c.907A>G	NP_000275.1:p.Thr303Ala
NM_001173454.1:c.1021A>G	NP_001166925.1:p.Thr341Ala
NM_001173455.1:c.928A>G	NP_001166926.1:p.Thr310Ala
NM_001173456.1:c.814A>G	NP_001166927.1:p.Thr272Ala
XM_011545531.1:c.1042A>G	XP_011543833.1:p.Thr348Ala
XM_011545532.1:c.949A>G	XP_011543834.1:p.Thr317Ala
XM_017029574.2:c.928A>G	XP_016885063.1:p.Thr310Ala
NM_000284.4:c.907A>G MANE Select	NP_000275.1:p.Thr303Ala
NM_001173454.2:c.1021A>G	NP_001166925.1:p.Thr341Ala
NM_001173455.2:c.928A>G	NP_001166926.1:p.Thr310Ala
NM_001173456.2:c.814A>G	NP_001166927.1:p.Thr272Ala