Canonical Allele Identifier: CA412394468

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373521T>C (hg19) ; chrX:g.19355403T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355403T>C , CM000685.2:g.19355403T>C	GRCh38
NC_000023.10:g.19373521T>C , CM000685.1:g.19373521T>C	GRCh37
NC_000023.9:g.19283442T>C	NCBI36
NG_016781.1:g.16511T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.679T>C	ENSP00000348062.6:p.Phe227Leu
ENST00000379805.4:c.*350T>C	ENSP00000369133.3:n.*350T>C
ENST00000417819.6:c.742T>C	ENSP00000404616.2:p.Phe248Leu
ENST00000423505.6:c.772T>C	ENSP00000406473.2:p.Phe258Leu
ENST00000481733.2:n.453T>C
ENST00000696704.1:c.473T>C	ENSP00000512823.1:p.Phe158Ser
ENST00000696705.1:c.*113T>C	ENSP00000512824.1:n.*113T>C
ENST00000422285.7:c.658T>C MANE Select	ENSP00000394382.2:p.Phe220Leu
ENST00000379806.9:c.772T>C	ENSP00000369134.5:p.Phe258Leu
ENST00000422285.6:c.658T>C	ENSP00000394382.2:p.Phe220Leu
ENST00000479146.1:n.493T>C
ENST00000481733.1:n.86T>C
ENST00000540249.5:c.565T>C	ENSP00000440761.1:p.Phe189Leu
ENST00000545074.5:c.679T>C	ENSP00000438550.1:p.Phe227Leu
NM_000284.3:c.658T>C	NP_000275.1:p.Phe220Leu
NM_001173454.1:c.772T>C	NP_001166925.1:p.Phe258Leu
NM_001173455.1:c.679T>C	NP_001166926.1:p.Phe227Leu
NM_001173456.1:c.565T>C	NP_001166927.1:p.Phe189Leu
XM_011545531.1:c.793T>C	XP_011543833.1:p.Phe265Leu
XM_011545532.1:c.700T>C	XP_011543834.1:p.Phe234Leu
XM_017029574.2:c.679T>C	XP_016885063.1:p.Phe227Leu
NM_000284.4:c.658T>C MANE Select	NP_000275.1:p.Phe220Leu
NM_001173454.2:c.772T>C	NP_001166925.1:p.Phe258Leu
NM_001173455.2:c.679T>C	NP_001166926.1:p.Phe227Leu
NM_001173456.2:c.565T>C	NP_001166927.1:p.Phe189Leu