Canonical Allele Identifier: CA412397468

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377763G>T (hg19) ; chrX:g.19359645G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359645G>T , CM000685.2:g.19359645G>T	GRCh38
NC_000023.10:g.19377763G>T , CM000685.1:g.19377763G>T	GRCh37
NC_000023.9:g.19287684G>T	NCBI36
NG_016781.1:g.20753G>T
NG_021184.1:g.160617C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1186G>T	ENSP00000348062.6:p.Val396Phe
ENST00000379805.4:c.*857G>T	ENSP00000369133.3:n.*857G>T
ENST00000417819.6:c.1249G>T	ENSP00000404616.2:p.Val417Phe
ENST00000423505.6:c.1279G>T	ENSP00000406473.2:p.Val427Phe
ENST00000481733.2:n.960G>T
ENST00000696704.1:c.*497G>T	ENSP00000512823.1:n.*497G>T
ENST00000696705.1:c.*620G>T	ENSP00000512824.1:n.*620G>T
ENST00000422285.7:c.1165G>T MANE Select	ENSP00000394382.2:p.Val389Phe
ENST00000379804.1:c.322G>T	ENSP00000369132.1:p.Val108Phe
ENST00000379806.9:c.1279G>T	ENSP00000369134.5:p.Val427Phe
ENST00000422285.6:c.1165G>T	ENSP00000394382.2:p.Val389Phe
ENST00000478795.1:n.604G>T
ENST00000540249.5:c.1072G>T	ENSP00000440761.1:p.Val358Phe
ENST00000545074.5:c.1186G>T	ENSP00000438550.1:p.Val396Phe
NM_000284.3:c.1165G>T	NP_000275.1:p.Val389Phe
NM_001173454.1:c.1279G>T	NP_001166925.1:p.Val427Phe
NM_001173455.1:c.1186G>T	NP_001166926.1:p.Val396Phe
NM_001173456.1:c.1072G>T	NP_001166927.1:p.Val358Phe
XM_011545531.1:c.1300G>T	XP_011543833.1:p.Val434Phe
XM_011545532.1:c.1207G>T	XP_011543834.1:p.Val403Phe
XM_017029574.2:c.1186G>T	XP_016885063.1:p.Val396Phe
NM_000284.4:c.1165G>T MANE Select	NP_000275.1:p.Val389Phe
NM_001173454.2:c.1279G>T	NP_001166925.1:p.Val427Phe
NM_001173455.2:c.1186G>T	NP_001166926.1:p.Val396Phe
NM_001173456.2:c.1072G>T	NP_001166927.1:p.Val358Phe