Canonical Allele Identifier: CA412394433

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373511A>T (hg19) ; chrX:g.19355393A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355393A>T , CM000685.2:g.19355393A>T	GRCh38
NC_000023.10:g.19373511A>T , CM000685.1:g.19373511A>T	GRCh37
NC_000023.9:g.19283432A>T	NCBI36
NG_016781.1:g.16501A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.669A>T	ENSP00000348062.6:p.Leu223Phe
ENST00000379805.4:c.*340A>T	ENSP00000369133.3:n.*340A>T
ENST00000417819.6:c.732A>T	ENSP00000404616.2:p.Leu244Phe
ENST00000423505.6:c.762A>T	ENSP00000406473.2:p.Leu254Phe
ENST00000481733.2:n.443A>T
ENST00000696704.1:c.463A>T	ENSP00000512823.1:p.Thr155Ser
ENST00000696705.1:c.*103A>T	ENSP00000512824.1:n.*103A>T
ENST00000422285.7:c.648A>T MANE Select	ENSP00000394382.2:p.Leu216Phe
ENST00000379806.9:c.762A>T	ENSP00000369134.5:p.Leu254Phe
ENST00000422285.6:c.648A>T	ENSP00000394382.2:p.Leu216Phe
ENST00000479146.1:n.483A>T
ENST00000481733.1:n.76A>T
ENST00000540249.5:c.555A>T	ENSP00000440761.1:p.Leu185Phe
ENST00000545074.5:c.669A>T	ENSP00000438550.1:p.Leu223Phe
NM_000284.3:c.648A>T	NP_000275.1:p.Leu216Phe
NM_001173454.1:c.762A>T	NP_001166925.1:p.Leu254Phe
NM_001173455.1:c.669A>T	NP_001166926.1:p.Leu223Phe
NM_001173456.1:c.555A>T	NP_001166927.1:p.Leu185Phe
XM_011545531.1:c.783A>T	XP_011543833.1:p.Leu261Phe
XM_011545532.1:c.690A>T	XP_011543834.1:p.Leu230Phe
XM_017029574.2:c.669A>T	XP_016885063.1:p.Leu223Phe
NM_000284.4:c.648A>T MANE Select	NP_000275.1:p.Leu216Phe
NM_001173454.2:c.762A>T	NP_001166925.1:p.Leu254Phe
NM_001173455.2:c.669A>T	NP_001166926.1:p.Leu223Phe
NM_001173456.2:c.555A>T	NP_001166927.1:p.Leu185Phe