Canonical Allele Identifier: CA412394665

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373605T>C (hg19) ; chrX:g.19355487T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355487T>C , CM000685.2:g.19355487T>C	GRCh38
NC_000023.10:g.19373605T>C , CM000685.1:g.19373605T>C	GRCh37
NC_000023.9:g.19283526T>C	NCBI36
NG_016781.1:g.16595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.763T>C	ENSP00000348062.6:p.Phe255Leu
ENST00000379805.4:c.*434T>C	ENSP00000369133.3:n.*434T>C
ENST00000417819.6:c.826T>C	ENSP00000404616.2:p.Phe276Leu
ENST00000423505.6:c.856T>C	ENSP00000406473.2:p.Phe286Leu
ENST00000481733.2:n.537T>C
ENST00000696704.1:c.*74T>C	ENSP00000512823.1:n.*74T>C
ENST00000696705.1:c.*197T>C	ENSP00000512824.1:n.*197T>C
ENST00000422285.7:c.742T>C MANE Select	ENSP00000394382.2:p.Phe248Leu
ENST00000379806.9:c.856T>C	ENSP00000369134.5:p.Phe286Leu
ENST00000422285.6:c.742T>C	ENSP00000394382.2:p.Phe248Leu
ENST00000481733.1:n.170T>C
ENST00000540249.5:c.649T>C	ENSP00000440761.1:p.Phe217Leu
ENST00000545074.5:c.763T>C	ENSP00000438550.1:p.Phe255Leu
NM_000284.3:c.742T>C	NP_000275.1:p.Phe248Leu
NM_001173454.1:c.856T>C	NP_001166925.1:p.Phe286Leu
NM_001173455.1:c.763T>C	NP_001166926.1:p.Phe255Leu
NM_001173456.1:c.649T>C	NP_001166927.1:p.Phe217Leu
XM_011545531.1:c.877T>C	XP_011543833.1:p.Phe293Leu
XM_011545532.1:c.784T>C	XP_011543834.1:p.Phe262Leu
XM_017029574.2:c.763T>C	XP_016885063.1:p.Phe255Leu
NM_000284.4:c.742T>C MANE Select	NP_000275.1:p.Phe248Leu
NM_001173454.2:c.856T>C	NP_001166925.1:p.Phe286Leu
NM_001173455.2:c.763T>C	NP_001166926.1:p.Phe255Leu
NM_001173456.2:c.649T>C	NP_001166927.1:p.Phe217Leu