Canonical Allele Identifier: CA412397537

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377770A>T (hg19) ; chrX:g.19359652A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359652A>T , CM000685.2:g.19359652A>T	GRCh38
NC_000023.10:g.19377770A>T , CM000685.1:g.19377770A>T	GRCh37
NC_000023.9:g.19287691A>T	NCBI36
NG_016781.1:g.20760A>T
NG_021184.1:g.160610T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1193A>T	ENSP00000348062.6:p.Ter398Leu
ENST00000379805.4:c.*864A>T	ENSP00000369133.3:n.*864A>T
ENST00000417819.6:c.1256A>T	ENSP00000404616.2:p.Ter419Leu
ENST00000423505.6:c.1286A>T	ENSP00000406473.2:p.Ter429Leu
ENST00000481733.2:n.967A>T
ENST00000696704.1:c.*504A>T	ENSP00000512823.1:n.*504A>T
ENST00000696705.1:c.*627A>T	ENSP00000512824.1:n.*627A>T
ENST00000422285.7:c.1172A>T MANE Select	ENSP00000394382.2:p.Ter391Leu
ENST00000379804.1:c.329A>T	ENSP00000369132.1:p.Ter110Leu
ENST00000379806.9:c.1286A>T	ENSP00000369134.5:p.Ter429Leu
ENST00000422285.6:c.1172A>T	ENSP00000394382.2:p.Ter391Leu
ENST00000478795.1:n.611A>T
ENST00000540249.5:c.1079A>T	ENSP00000440761.1:p.Ter360Leu
ENST00000545074.5:c.1193A>T	ENSP00000438550.1:p.Ter398Leu
NM_000284.3:c.1172A>T	NP_000275.1:p.Ter391Leu
NM_001173454.1:c.1286A>T	NP_001166925.1:p.Ter429Leu
NM_001173455.1:c.1193A>T	NP_001166926.1:p.Ter398Leu
NM_001173456.1:c.1079A>T	NP_001166927.1:p.Ter360Leu
XM_011545531.1:c.1307A>T	XP_011543833.1:p.Ter436Leu
XM_011545532.1:c.1214A>T	XP_011543834.1:p.Ter405Leu
XM_017029574.2:c.1193A>T	XP_016885063.1:p.Ter398Leu
NM_000284.4:c.1172A>T MANE Select	NP_000275.1:p.Ter391Leu
NM_001173454.2:c.1286A>T	NP_001166925.1:p.Ter429Leu
NM_001173455.2:c.1193A>T	NP_001166926.1:p.Ter398Leu
NM_001173456.2:c.1079A>T	NP_001166927.1:p.Ter360Leu