Canonical Allele Identifier: CA412396042

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377041A>T (hg19) ; chrX:g.19358923A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.928A>T	ENSP00000348062.6:p.Thr310Ser
ENST00000379805.4:c.*599A>T	ENSP00000369133.3:n.*599A>T
ENST00000417819.6:c.991A>T	ENSP00000404616.2:p.Thr331Ser
ENST00000423505.6:c.1021A>T	ENSP00000406473.2:p.Thr341Ser
ENST00000481733.2:n.702A>T
ENST00000696704.1:c.*239A>T	ENSP00000512823.1:n.*239A>T
ENST00000696705.1:c.*362A>T	ENSP00000512824.1:n.*362A>T
ENST00000422285.7:c.907A>T MANE Select	ENSP00000394382.2:p.Thr303Ser
ENST00000379804.1:c.64A>T	ENSP00000369132.1:p.Thr22Ser
ENST00000379806.9:c.1021A>T	ENSP00000369134.5:p.Thr341Ser
ENST00000422285.6:c.907A>T	ENSP00000394382.2:p.Thr303Ser
ENST00000478795.1:n.346A>T
ENST00000481733.1:n.335A>T
ENST00000540249.5:c.814A>T	ENSP00000440761.1:p.Thr272Ser
ENST00000545074.5:c.928A>T	ENSP00000438550.1:p.Thr310Ser
NM_000284.3:c.907A>T	NP_000275.1:p.Thr303Ser
NM_001173454.1:c.1021A>T	NP_001166925.1:p.Thr341Ser
NM_001173455.1:c.928A>T	NP_001166926.1:p.Thr310Ser
NM_001173456.1:c.814A>T	NP_001166927.1:p.Thr272Ser
XM_011545531.1:c.1042A>T	XP_011543833.1:p.Thr348Ser
XM_011545532.1:c.949A>T	XP_011543834.1:p.Thr317Ser
XM_017029574.2:c.928A>T	XP_016885063.1:p.Thr310Ser
NM_000284.4:c.907A>T MANE Select	NP_000275.1:p.Thr303Ser
NM_001173454.2:c.1021A>T	NP_001166925.1:p.Thr341Ser
NM_001173455.2:c.928A>T	NP_001166926.1:p.Thr310Ser
NM_001173456.2:c.814A>T	NP_001166927.1:p.Thr272Ser