Canonical Allele Identifier: CA412395252

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375821A>T (hg19) ; chrX:g.19357703A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357703A>T , CM000685.2:g.19357703A>T	GRCh38
NC_000023.10:g.19375821A>T , CM000685.1:g.19375821A>T	GRCh37
NC_000023.9:g.19285742A>T	NCBI36
NG_016781.1:g.18811A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.904A>T	ENSP00000348062.6:p.Ser302Cys
ENST00000379805.4:c.*575A>T	ENSP00000369133.3:n.*575A>T
ENST00000417819.6:c.967A>T	ENSP00000404616.2:p.Ser323Cys
ENST00000423505.6:c.997A>T	ENSP00000406473.2:p.Ser333Cys
ENST00000481733.2:n.678A>T
ENST00000696704.1:c.*215A>T	ENSP00000512823.1:n.*215A>T
ENST00000696705.1:c.*338A>T	ENSP00000512824.1:n.*338A>T
ENST00000422285.7:c.883A>T MANE Select	ENSP00000394382.2:p.Ser295Cys
ENST00000379804.1:c.40A>T	ENSP00000369132.1:p.Ser14Cys
ENST00000379806.9:c.997A>T	ENSP00000369134.5:p.Ser333Cys
ENST00000422285.6:c.883A>T	ENSP00000394382.2:p.Ser295Cys
ENST00000478795.1:n.322A>T
ENST00000481733.1:n.311A>T
ENST00000540249.5:c.790A>T	ENSP00000440761.1:p.Ser264Cys
ENST00000545074.5:c.904A>T	ENSP00000438550.1:p.Ser302Cys
NM_000284.3:c.883A>T	NP_000275.1:p.Ser295Cys
NM_001173454.1:c.997A>T	NP_001166925.1:p.Ser333Cys
NM_001173455.1:c.904A>T	NP_001166926.1:p.Ser302Cys
NM_001173456.1:c.790A>T	NP_001166927.1:p.Ser264Cys
XM_011545531.1:c.1018A>T	XP_011543833.1:p.Ser340Cys
XM_011545532.1:c.925A>T	XP_011543834.1:p.Ser309Cys
XM_017029574.2:c.904A>T	XP_016885063.1:p.Ser302Cys
NM_000284.4:c.883A>T MANE Select	NP_000275.1:p.Ser295Cys
NM_001173454.2:c.997A>T	NP_001166925.1:p.Ser333Cys
NM_001173455.2:c.904A>T	NP_001166926.1:p.Ser302Cys
NM_001173456.2:c.790A>T	NP_001166927.1:p.Ser264Cys