Canonical Allele Identifier: CA412394428

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373510T>C (hg19) ; chrX:g.19355392T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355392T>C , CM000685.2:g.19355392T>C	GRCh38
NC_000023.10:g.19373510T>C , CM000685.1:g.19373510T>C	GRCh37
NC_000023.9:g.19283431T>C	NCBI36
NG_016781.1:g.16500T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.668T>C	ENSP00000348062.6:p.Leu223Ser
ENST00000379805.4:c.*339T>C	ENSP00000369133.3:n.*339T>C
ENST00000417819.6:c.731T>C	ENSP00000404616.2:p.Leu244Ser
ENST00000423505.6:c.761T>C	ENSP00000406473.2:p.Leu254Ser
ENST00000481733.2:n.442T>C
ENST00000696704.1:c.462T>C	ENSP00000512823.1:p.Ile154=
ENST00000696705.1:c.*102T>C	ENSP00000512824.1:n.*102T>C
ENST00000422285.7:c.647T>C MANE Select	ENSP00000394382.2:p.Leu216Ser
ENST00000379806.9:c.761T>C	ENSP00000369134.5:p.Leu254Ser
ENST00000422285.6:c.647T>C	ENSP00000394382.2:p.Leu216Ser
ENST00000479146.1:n.482T>C
ENST00000481733.1:n.75T>C
ENST00000540249.5:c.554T>C	ENSP00000440761.1:p.Leu185Ser
ENST00000545074.5:c.668T>C	ENSP00000438550.1:p.Leu223Ser
NM_000284.3:c.647T>C	NP_000275.1:p.Leu216Ser
NM_001173454.1:c.761T>C	NP_001166925.1:p.Leu254Ser
NM_001173455.1:c.668T>C	NP_001166926.1:p.Leu223Ser
NM_001173456.1:c.554T>C	NP_001166927.1:p.Leu185Ser
XM_011545531.1:c.782T>C	XP_011543833.1:p.Leu261Ser
XM_011545532.1:c.689T>C	XP_011543834.1:p.Leu230Ser
XM_017029574.2:c.668T>C	XP_016885063.1:p.Leu223Ser
NM_000284.4:c.647T>C MANE Select	NP_000275.1:p.Leu216Ser
NM_001173454.2:c.761T>C	NP_001166925.1:p.Leu254Ser
NM_001173455.2:c.668T>C	NP_001166926.1:p.Leu223Ser
NM_001173456.2:c.554T>C	NP_001166927.1:p.Leu185Ser