Canonical Allele Identifier: CA412396559

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377652T>C (hg19) ; chrX:g.19359534T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359534T>C , CM000685.2:g.19359534T>C	GRCh38
NC_000023.10:g.19377652T>C , CM000685.1:g.19377652T>C	GRCh37
NC_000023.9:g.19287573T>C	NCBI36
NG_016781.1:g.20642T>C
NG_021184.1:g.160728A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1075T>C	ENSP00000348062.6:p.Phe359Leu
ENST00000379805.4:c.*746T>C	ENSP00000369133.3:n.*746T>C
ENST00000417819.6:c.1138T>C	ENSP00000404616.2:p.Phe380Leu
ENST00000423505.6:c.1168T>C	ENSP00000406473.2:p.Phe390Leu
ENST00000481733.2:n.849T>C
ENST00000696704.1:c.*386T>C	ENSP00000512823.1:n.*386T>C
ENST00000696705.1:c.*509T>C	ENSP00000512824.1:n.*509T>C
ENST00000422285.7:c.1054T>C MANE Select	ENSP00000394382.2:p.Phe352Leu
ENST00000379804.1:c.211T>C	ENSP00000369132.1:p.Phe71Leu
ENST00000379806.9:c.1168T>C	ENSP00000369134.5:p.Phe390Leu
ENST00000422285.6:c.1054T>C	ENSP00000394382.2:p.Phe352Leu
ENST00000478795.1:n.493T>C
ENST00000540249.5:c.961T>C	ENSP00000440761.1:p.Phe321Leu
ENST00000545074.5:c.1075T>C	ENSP00000438550.1:p.Phe359Leu
NM_000284.3:c.1054T>C	NP_000275.1:p.Phe352Leu
NM_001173454.1:c.1168T>C	NP_001166925.1:p.Phe390Leu
NM_001173455.1:c.1075T>C	NP_001166926.1:p.Phe359Leu
NM_001173456.1:c.961T>C	NP_001166927.1:p.Phe321Leu
XM_011545531.1:c.1189T>C	XP_011543833.1:p.Phe397Leu
XM_011545532.1:c.1096T>C	XP_011543834.1:p.Phe366Leu
XM_017029574.2:c.1075T>C	XP_016885063.1:p.Phe359Leu
NM_000284.4:c.1054T>C MANE Select	NP_000275.1:p.Phe352Leu
NM_001173454.2:c.1168T>C	NP_001166925.1:p.Phe390Leu
NM_001173455.2:c.1075T>C	NP_001166926.1:p.Phe359Leu
NM_001173456.2:c.961T>C	NP_001166927.1:p.Phe321Leu