Canonical Allele Identifier: CA412397252

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377746G>T (hg19) ; chrX:g.19359628G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359628G>T , CM000685.2:g.19359628G>T	GRCh38
NC_000023.10:g.19377746G>T , CM000685.1:g.19377746G>T	GRCh37
NC_000023.9:g.19287667G>T	NCBI36
NG_016781.1:g.20736G>T
NG_021184.1:g.160634C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1169G>T	ENSP00000348062.6:p.Trp390Leu
ENST00000379805.4:c.*840G>T	ENSP00000369133.3:n.*840G>T
ENST00000417819.6:c.1232G>T	ENSP00000404616.2:p.Trp411Leu
ENST00000423505.6:c.1262G>T	ENSP00000406473.2:p.Trp421Leu
ENST00000481733.2:n.943G>T
ENST00000696704.1:c.*480G>T	ENSP00000512823.1:n.*480G>T
ENST00000696705.1:c.*603G>T	ENSP00000512824.1:n.*603G>T
ENST00000422285.7:c.1148G>T MANE Select	ENSP00000394382.2:p.Trp383Leu
ENST00000379804.1:c.305G>T	ENSP00000369132.1:p.Trp102Leu
ENST00000379806.9:c.1262G>T	ENSP00000369134.5:p.Trp421Leu
ENST00000422285.6:c.1148G>T	ENSP00000394382.2:p.Trp383Leu
ENST00000478795.1:n.587G>T
ENST00000540249.5:c.1055G>T	ENSP00000440761.1:p.Trp352Leu
ENST00000545074.5:c.1169G>T	ENSP00000438550.1:p.Trp390Leu
NM_000284.3:c.1148G>T	NP_000275.1:p.Trp383Leu
NM_001173454.1:c.1262G>T	NP_001166925.1:p.Trp421Leu
NM_001173455.1:c.1169G>T	NP_001166926.1:p.Trp390Leu
NM_001173456.1:c.1055G>T	NP_001166927.1:p.Trp352Leu
XM_011545531.1:c.1283G>T	XP_011543833.1:p.Trp428Leu
XM_011545532.1:c.1190G>T	XP_011543834.1:p.Trp397Leu
XM_017029574.2:c.1169G>T	XP_016885063.1:p.Trp390Leu
NM_000284.4:c.1148G>T MANE Select	NP_000275.1:p.Trp383Leu
NM_001173454.2:c.1262G>T	NP_001166925.1:p.Trp421Leu
NM_001173455.2:c.1169G>T	NP_001166926.1:p.Trp390Leu
NM_001173456.2:c.1055G>T	NP_001166927.1:p.Trp352Leu