Canonical Allele Identifier: CA412394368

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373497G>C (hg19) ; chrX:g.19355379G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355379G>C , CM000685.2:g.19355379G>C	GRCh38
NC_000023.10:g.19373497G>C , CM000685.1:g.19373497G>C	GRCh37
NC_000023.9:g.19283418G>C	NCBI36
NG_016781.1:g.16487G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.655G>C	ENSP00000348062.6:p.Ala219Pro
ENST00000379805.4:c.*326G>C	ENSP00000369133.3:n.*326G>C
ENST00000417819.6:c.718G>C	ENSP00000404616.2:p.Ala240Pro
ENST00000423505.6:c.748G>C	ENSP00000406473.2:p.Ala250Pro
ENST00000481733.2:n.429G>C
ENST00000696704.1:c.449G>C	ENSP00000512823.1:p.Ser150Thr
ENST00000696705.1:c.*89G>C	ENSP00000512824.1:n.*89G>C
ENST00000422285.7:c.634G>C MANE Select	ENSP00000394382.2:p.Ala212Pro
ENST00000379806.9:c.748G>C	ENSP00000369134.5:p.Ala250Pro
ENST00000422285.6:c.634G>C	ENSP00000394382.2:p.Ala212Pro
ENST00000479146.1:n.469G>C
ENST00000481733.1:n.62G>C
ENST00000540249.5:c.541G>C	ENSP00000440761.1:p.Ala181Pro
ENST00000545074.5:c.655G>C	ENSP00000438550.1:p.Ala219Pro
NM_000284.3:c.634G>C	NP_000275.1:p.Ala212Pro
NM_001173454.1:c.748G>C	NP_001166925.1:p.Ala250Pro
NM_001173455.1:c.655G>C	NP_001166926.1:p.Ala219Pro
NM_001173456.1:c.541G>C	NP_001166927.1:p.Ala181Pro
XM_011545531.1:c.769G>C	XP_011543833.1:p.Ala257Pro
XM_011545532.1:c.676G>C	XP_011543834.1:p.Ala226Pro
XM_017029574.2:c.655G>C	XP_016885063.1:p.Ala219Pro
NM_000284.4:c.634G>C MANE Select	NP_000275.1:p.Ala212Pro
NM_001173454.2:c.748G>C	NP_001166925.1:p.Ala250Pro
NM_001173455.2:c.655G>C	NP_001166926.1:p.Ala219Pro
NM_001173456.2:c.541G>C	NP_001166927.1:p.Ala181Pro