Canonical Allele Identifier: CA412394232

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373470C>T (hg19) ; chrX:g.19355352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355352C>T , CM000685.2:g.19355352C>T	GRCh38
NC_000023.10:g.19373470C>T , CM000685.1:g.19373470C>T	GRCh37
NC_000023.9:g.19283391C>T	NCBI36
NG_016781.1:g.16460C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.628C>T	ENSP00000348062.6:p.Gln210Ter
ENST00000379805.4:c.*299C>T	ENSP00000369133.3:n.*299C>T
ENST00000417819.6:c.691C>T	ENSP00000404616.2:p.Gln231Ter
ENST00000423505.6:c.721C>T	ENSP00000406473.2:p.Gln241Ter
ENST00000481733.2:n.402C>T
ENST00000696704.1:c.422C>T	ENSP00000512823.1:p.Pro141Leu
ENST00000696705.1:c.*62C>T	ENSP00000512824.1:n.*62C>T
ENST00000422285.7:c.607C>T MANE Select	ENSP00000394382.2:p.Gln203Ter
ENST00000379806.9:c.721C>T	ENSP00000369134.5:p.Gln241Ter
ENST00000422285.6:c.607C>T	ENSP00000394382.2:p.Gln203Ter
ENST00000479146.1:n.442C>T
ENST00000481733.1:n.35C>T
ENST00000540249.5:c.514C>T	ENSP00000440761.1:p.Gln172Ter
ENST00000545074.5:c.628C>T	ENSP00000438550.1:p.Gln210Ter
NM_000284.3:c.607C>T	NP_000275.1:p.Gln203Ter
NM_001173454.1:c.721C>T	NP_001166925.1:p.Gln241Ter
NM_001173455.1:c.628C>T	NP_001166926.1:p.Gln210Ter
NM_001173456.1:c.514C>T	NP_001166927.1:p.Gln172Ter
XM_011545531.1:c.742C>T	XP_011543833.1:p.Gln248Ter
XM_011545532.1:c.649C>T	XP_011543834.1:p.Gln217Ter
XM_017029574.2:c.628C>T	XP_016885063.1:p.Gln210Ter
NM_000284.4:c.607C>T MANE Select	NP_000275.1:p.Gln203Ter
NM_001173454.2:c.721C>T	NP_001166925.1:p.Gln241Ter
NM_001173455.2:c.628C>T	NP_001166926.1:p.Gln210Ter
NM_001173456.2:c.514C>T	NP_001166927.1:p.Gln172Ter