Canonical Allele Identifier: CA412396424

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377623T>A (hg19) ; chrX:g.19359505T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359505T>A , CM000685.2:g.19359505T>A	GRCh38
NC_000023.10:g.19377623T>A , CM000685.1:g.19377623T>A	GRCh37
NC_000023.9:g.19287544T>A	NCBI36
NG_016781.1:g.20613T>A
NG_021184.1:g.160757A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1046T>A	ENSP00000348062.6:p.Val349Glu
ENST00000379805.4:c.*717T>A	ENSP00000369133.3:n.*717T>A
ENST00000417819.6:c.1109T>A	ENSP00000404616.2:p.Val370Glu
ENST00000423505.6:c.1139T>A	ENSP00000406473.2:p.Val380Glu
ENST00000481733.2:n.820T>A
ENST00000696704.1:c.*357T>A	ENSP00000512823.1:n.*357T>A
ENST00000696705.1:c.*480T>A	ENSP00000512824.1:n.*480T>A
ENST00000422285.7:c.1025T>A MANE Select	ENSP00000394382.2:p.Val342Glu
ENST00000379804.1:c.182T>A	ENSP00000369132.1:p.Val61Glu
ENST00000379806.9:c.1139T>A	ENSP00000369134.5:p.Val380Glu
ENST00000422285.6:c.1025T>A	ENSP00000394382.2:p.Val342Glu
ENST00000478795.1:n.464T>A
ENST00000540249.5:c.932T>A	ENSP00000440761.1:p.Val311Glu
ENST00000545074.5:c.1046T>A	ENSP00000438550.1:p.Val349Glu
NM_000284.3:c.1025T>A	NP_000275.1:p.Val342Glu
NM_001173454.1:c.1139T>A	NP_001166925.1:p.Val380Glu
NM_001173455.1:c.1046T>A	NP_001166926.1:p.Val349Glu
NM_001173456.1:c.932T>A	NP_001166927.1:p.Val311Glu
XM_011545531.1:c.1160T>A	XP_011543833.1:p.Val387Glu
XM_011545532.1:c.1067T>A	XP_011543834.1:p.Val356Glu
XM_017029574.2:c.1046T>A	XP_016885063.1:p.Val349Glu
NM_000284.4:c.1025T>A MANE Select	NP_000275.1:p.Val342Glu
NM_001173454.2:c.1139T>A	NP_001166925.1:p.Val380Glu
NM_001173455.2:c.1046T>A	NP_001166926.1:p.Val349Glu
NM_001173456.2:c.932T>A	NP_001166927.1:p.Val311Glu