Canonical Allele Identifier: CA412395260

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375824G>C (hg19) ; chrX:g.19357706G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357706G>C , CM000685.2:g.19357706G>C	GRCh38
NC_000023.10:g.19375824G>C , CM000685.1:g.19375824G>C	GRCh37
NC_000023.9:g.19285745G>C	NCBI36
NG_016781.1:g.18814G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.907G>C	ENSP00000348062.6:p.Asp303His
ENST00000379805.4:c.*578G>C	ENSP00000369133.3:n.*578G>C
ENST00000417819.6:c.970G>C	ENSP00000404616.2:p.Asp324His
ENST00000423505.6:c.1000G>C	ENSP00000406473.2:p.Asp334His
ENST00000481733.2:n.681G>C
ENST00000696704.1:c.*218G>C	ENSP00000512823.1:n.*218G>C
ENST00000696705.1:c.*341G>C	ENSP00000512824.1:n.*341G>C
ENST00000422285.7:c.886G>C MANE Select	ENSP00000394382.2:p.Asp296His
ENST00000379804.1:c.43G>C	ENSP00000369132.1:p.Asp15His
ENST00000379806.9:c.1000G>C	ENSP00000369134.5:p.Asp334His
ENST00000422285.6:c.886G>C	ENSP00000394382.2:p.Asp296His
ENST00000478795.1:n.325G>C
ENST00000481733.1:n.314G>C
ENST00000540249.5:c.793G>C	ENSP00000440761.1:p.Asp265His
ENST00000545074.5:c.907G>C	ENSP00000438550.1:p.Asp303His
NM_000284.3:c.886G>C	NP_000275.1:p.Asp296His
NM_001173454.1:c.1000G>C	NP_001166925.1:p.Asp334His
NM_001173455.1:c.907G>C	NP_001166926.1:p.Asp303His
NM_001173456.1:c.793G>C	NP_001166927.1:p.Asp265His
XM_011545531.1:c.1021G>C	XP_011543833.1:p.Asp341His
XM_011545532.1:c.928G>C	XP_011543834.1:p.Asp310His
XM_017029574.2:c.907G>C	XP_016885063.1:p.Asp303His
NM_000284.4:c.886G>C MANE Select	NP_000275.1:p.Asp296His
NM_001173454.2:c.1000G>C	NP_001166925.1:p.Asp334His
NM_001173455.2:c.907G>C	NP_001166926.1:p.Asp303His
NM_001173456.2:c.793G>C	NP_001166927.1:p.Asp265His