Canonical Allele Identifier: CA412393504

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19371291G>T (hg19) ; chrX:g.19353173G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19353173G>T , CM000685.2:g.19353173G>T	GRCh38
NC_000023.10:g.19371291G>T , CM000685.1:g.19371291G>T	GRCh37
NC_000023.9:g.19281212G>T	NCBI36
NG_016781.1:g.14281G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.531G>T	ENSP00000348062.6:p.Gln177His
ENST00000379805.4:c.510G>T	ENSP00000369133.3:p.Gln170His
ENST00000417819.6:c.594G>T	ENSP00000404616.2:p.Gln198His
ENST00000423505.6:c.624G>T	ENSP00000406473.2:p.Gln208His
ENST00000696704.1:c.418+1766G>T	ENSP00000512823.1:n.418+1766G>T
ENST00000696705.1:c.419-1318G>T	ENSP00000512824.1:n.419-1318G>T
ENST00000422285.7:c.510G>T MANE Select	ENSP00000394382.2:p.Gln170His
ENST00000355808.9:c.531G>T	ENSP00000348062.5:p.Gln177His
ENST00000379805.3:c.510G>T	ENSP00000369133.3:p.Gln170His
ENST00000379806.9:c.624G>T	ENSP00000369134.5:p.Gln208His
ENST00000422285.6:c.510G>T	ENSP00000394382.2:p.Gln170His
ENST00000479146.1:n.345G>T
ENST00000540249.5:c.510G>T	ENSP00000440761.1:p.Gln170His
ENST00000545074.5:c.531G>T	ENSP00000438550.1:p.Gln177His
NM_000284.3:c.510G>T	NP_000275.1:p.Gln170His
NM_001173454.1:c.624G>T	NP_001166925.1:p.Gln208His
NM_001173455.1:c.531G>T	NP_001166926.1:p.Gln177His
NM_001173456.1:c.510G>T	NP_001166927.1:p.Gln170His
XM_011545531.1:c.645G>T	XP_011543833.1:p.Gln215His
XM_011545532.1:c.645G>T	XP_011543834.1:p.Gln215His
XM_017029574.2:c.624G>T	XP_016885063.1:p.Gln208His
NM_000284.4:c.510G>T MANE Select	NP_000275.1:p.Gln170His
NM_001173454.2:c.624G>T	NP_001166925.1:p.Gln208His
NM_001173455.2:c.531G>T	NP_001166926.1:p.Gln177His
NM_001173456.2:c.510G>T	NP_001166927.1:p.Gln170His