Canonical Allele Identifier: CA515486275

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377040T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358922T>C , CM000685.2:g.19358922T>C	GRCh38
NC_000023.10:g.19377040T>C , CM000685.1:g.19377040T>C	GRCh37
NC_000023.9:g.19286961T>C	NCBI36
NG_016781.1:g.20030T>C
NG_021184.1:g.161340A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.927T>C	ENSP00000348062.6:p.Arg309=
ENST00000379805.4:c.*598T>C	ENSP00000369133.3:n.*598T>C
ENST00000417819.6:c.990T>C	ENSP00000404616.2:p.Arg330=
ENST00000423505.6:c.1020T>C	ENSP00000406473.2:p.Arg340=
ENST00000481733.2:n.701T>C
ENST00000696704.1:c.*238T>C	ENSP00000512823.1:n.*238T>C
ENST00000696705.1:c.*361T>C	ENSP00000512824.1:n.*361T>C
ENST00000422285.7:c.906T>C MANE Select	ENSP00000394382.2:p.Arg302=
ENST00000379804.1:c.63T>C	ENSP00000369132.1:p.Arg21=
ENST00000379806.9:c.1020T>C	ENSP00000369134.5:p.Arg340=
ENST00000422285.6:c.906T>C	ENSP00000394382.2:p.Arg302=
ENST00000478795.1:n.345T>C
ENST00000481733.1:n.334T>C
ENST00000540249.5:c.813T>C	ENSP00000440761.1:p.Arg271=
ENST00000545074.5:c.927T>C	ENSP00000438550.1:p.Arg309=
NM_000284.3:c.906T>C	NP_000275.1:p.Arg302=
NM_001173454.1:c.1020T>C	NP_001166925.1:p.Arg340=
NM_001173455.1:c.927T>C	NP_001166926.1:p.Arg309=
NM_001173456.1:c.813T>C	NP_001166927.1:p.Arg271=
XM_011545531.1:c.1041T>C	XP_011543833.1:p.Arg347=
XM_011545532.1:c.948T>C	XP_011543834.1:p.Arg316=
XM_017029574.2:c.927T>C	XP_016885063.1:p.Arg309=
NM_000284.4:c.906T>C MANE Select	NP_000275.1:p.Arg302=
NM_001173454.2:c.1020T>C	NP_001166925.1:p.Arg340=
NM_001173455.2:c.927T>C	NP_001166926.1:p.Arg309=
NM_001173456.2:c.813T>C	NP_001166927.1:p.Arg271=