Canonical Allele Identifier: CA412394847

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063192867
• MyVariant Identifiers: chrX:g.19373865G>T (hg19) ; chrX:g.19355747G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355747G>T , CM000685.2:g.19355747G>T	GRCh38
NC_000023.10:g.19373865G>T , CM000685.1:g.19373865G>T	GRCh37
NC_000023.9:g.19283786G>T	NCBI36
NG_016781.1:g.16855G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.842G>T	ENSP00000348062.6:p.Arg281Ile
ENST00000379805.4:c.*513G>T	ENSP00000369133.3:n.*513G>T
ENST00000417819.6:c.905G>T	ENSP00000404616.2:p.Arg302Ile
ENST00000423505.6:c.935G>T	ENSP00000406473.2:p.Arg312Ile
ENST00000481733.2:n.616G>T
ENST00000696704.1:c.*153G>T	ENSP00000512823.1:n.*153G>T
ENST00000696705.1:c.*276G>T	ENSP00000512824.1:n.*276G>T
ENST00000422285.7:c.821G>T MANE Select	ENSP00000394382.2:p.Arg274Ile
ENST00000379804.1:c.-23G>T	ENSP00000369132.1:n.-23G>T
ENST00000379806.9:c.935G>T	ENSP00000369134.5:p.Arg312Ile
ENST00000422285.6:c.821G>T	ENSP00000394382.2:p.Arg274Ile
ENST00000481733.1:n.249G>T
ENST00000540249.5:c.728G>T	ENSP00000440761.1:p.Arg243Ile
ENST00000545074.5:c.842G>T	ENSP00000438550.1:p.Arg281Ile
NM_000284.3:c.821G>T	NP_000275.1:p.Arg274Ile
NM_001173454.1:c.935G>T	NP_001166925.1:p.Arg312Ile
NM_001173455.1:c.842G>T	NP_001166926.1:p.Arg281Ile
NM_001173456.1:c.728G>T	NP_001166927.1:p.Arg243Ile
XM_011545531.1:c.956G>T	XP_011543833.1:p.Arg319Ile
XM_011545532.1:c.863G>T	XP_011543834.1:p.Arg288Ile
XM_017029574.2:c.842G>T	XP_016885063.1:p.Arg281Ile
NM_000284.4:c.821G>T MANE Select	NP_000275.1:p.Arg274Ile
NM_001173454.2:c.935G>T	NP_001166925.1:p.Arg312Ile
NM_001173455.2:c.842G>T	NP_001166926.1:p.Arg281Ile
NM_001173456.2:c.728G>T	NP_001166927.1:p.Arg243Ile