Canonical Allele Identifier: CA412396146

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377074A>C (hg19) ; chrX:g.19358956A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358956A>C , CM000685.2:g.19358956A>C	GRCh38
NC_000023.10:g.19377074A>C , CM000685.1:g.19377074A>C	GRCh37
NC_000023.9:g.19286995A>C	NCBI36
NG_016781.1:g.20064A>C
NG_021184.1:g.161306T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.961A>C	ENSP00000348062.6:p.Ser321Arg
ENST00000379805.4:c.*632A>C	ENSP00000369133.3:n.*632A>C
ENST00000417819.6:c.1024A>C	ENSP00000404616.2:p.Ser342Arg
ENST00000423505.6:c.1054A>C	ENSP00000406473.2:p.Ser352Arg
ENST00000481733.2:n.735A>C
ENST00000696704.1:c.*272A>C	ENSP00000512823.1:n.*272A>C
ENST00000696705.1:c.*395A>C	ENSP00000512824.1:n.*395A>C
ENST00000422285.7:c.940A>C MANE Select	ENSP00000394382.2:p.Ser314Arg
ENST00000379804.1:c.97A>C	ENSP00000369132.1:p.Ser33Arg
ENST00000379806.9:c.1054A>C	ENSP00000369134.5:p.Ser352Arg
ENST00000422285.6:c.940A>C	ENSP00000394382.2:p.Ser314Arg
ENST00000478795.1:n.379A>C
ENST00000481733.1:n.368A>C
ENST00000540249.5:c.847A>C	ENSP00000440761.1:p.Ser283Arg
ENST00000545074.5:c.961A>C	ENSP00000438550.1:p.Ser321Arg
NM_000284.3:c.940A>C	NP_000275.1:p.Ser314Arg
NM_001173454.1:c.1054A>C	NP_001166925.1:p.Ser352Arg
NM_001173455.1:c.961A>C	NP_001166926.1:p.Ser321Arg
NM_001173456.1:c.847A>C	NP_001166927.1:p.Ser283Arg
XM_011545531.1:c.1075A>C	XP_011543833.1:p.Ser359Arg
XM_011545532.1:c.982A>C	XP_011543834.1:p.Ser328Arg
XM_017029574.2:c.961A>C	XP_016885063.1:p.Ser321Arg
NM_000284.4:c.940A>C MANE Select	NP_000275.1:p.Ser314Arg
NM_001173454.2:c.1054A>C	NP_001166925.1:p.Ser352Arg
NM_001173455.2:c.961A>C	NP_001166926.1:p.Ser321Arg
NM_001173456.2:c.847A>C	NP_001166927.1:p.Ser283Arg