Canonical Allele Identifier: CA412395217

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375807A>T (hg19) ; chrX:g.19357689A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357689A>T , CM000685.2:g.19357689A>T	GRCh38
NC_000023.10:g.19375807A>T , CM000685.1:g.19375807A>T	GRCh37
NC_000023.9:g.19285728A>T	NCBI36
NG_016781.1:g.18797A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.890A>T	ENSP00000348062.6:p.His297Leu
ENST00000379805.4:c.*561A>T	ENSP00000369133.3:n.*561A>T
ENST00000417819.6:c.953A>T	ENSP00000404616.2:p.His318Leu
ENST00000423505.6:c.983A>T	ENSP00000406473.2:p.His328Leu
ENST00000481733.2:n.664A>T
ENST00000696704.1:c.*201A>T	ENSP00000512823.1:n.*201A>T
ENST00000696705.1:c.*324A>T	ENSP00000512824.1:n.*324A>T
ENST00000422285.7:c.869A>T MANE Select	ENSP00000394382.2:p.His290Leu
ENST00000379804.1:c.26A>T	ENSP00000369132.1:p.His9Leu
ENST00000379806.9:c.983A>T	ENSP00000369134.5:p.His328Leu
ENST00000422285.6:c.869A>T	ENSP00000394382.2:p.His290Leu
ENST00000478795.1:n.308A>T
ENST00000481733.1:n.297A>T
ENST00000540249.5:c.776A>T	ENSP00000440761.1:p.His259Leu
ENST00000545074.5:c.890A>T	ENSP00000438550.1:p.His297Leu
NM_000284.3:c.869A>T	NP_000275.1:p.His290Leu
NM_001173454.1:c.983A>T	NP_001166925.1:p.His328Leu
NM_001173455.1:c.890A>T	NP_001166926.1:p.His297Leu
NM_001173456.1:c.776A>T	NP_001166927.1:p.His259Leu
XM_011545531.1:c.1004A>T	XP_011543833.1:p.His335Leu
XM_011545532.1:c.911A>T	XP_011543834.1:p.His304Leu
XM_017029574.2:c.890A>T	XP_016885063.1:p.His297Leu
NM_000284.4:c.869A>T MANE Select	NP_000275.1:p.His290Leu
NM_001173454.2:c.983A>T	NP_001166925.1:p.His328Leu
NM_001173455.2:c.890A>T	NP_001166926.1:p.His297Leu
NM_001173456.2:c.776A>T	NP_001166927.1:p.His259Leu