Canonical Allele Identifier: CA412395137

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375771G>C (hg19) ; chrX:g.19357653G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357653G>C , CM000685.2:g.19357653G>C	GRCh38
NC_000023.10:g.19375771G>C , CM000685.1:g.19375771G>C	GRCh37
NC_000023.9:g.19285692G>C	NCBI36
NG_016781.1:g.18761G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.854G>C	ENSP00000348062.6:p.Gly285Ala
ENST00000379805.4:c.*525G>C	ENSP00000369133.3:n.*525G>C
ENST00000417819.6:c.917G>C	ENSP00000404616.2:p.Gly306Ala
ENST00000423505.6:c.947G>C	ENSP00000406473.2:p.Gly316Ala
ENST00000481733.2:n.628G>C
ENST00000696704.1:c.*165G>C	ENSP00000512823.1:n.*165G>C
ENST00000696705.1:c.*288G>C	ENSP00000512824.1:n.*288G>C
ENST00000422285.7:c.833G>C MANE Select	ENSP00000394382.2:p.Gly278Ala
ENST00000379804.1:c.-11G>C	ENSP00000369132.1:n.-11G>C
ENST00000379806.9:c.947G>C	ENSP00000369134.5:p.Gly316Ala
ENST00000422285.6:c.833G>C	ENSP00000394382.2:p.Gly278Ala
ENST00000478795.1:n.272G>C
ENST00000481733.1:n.261G>C
ENST00000540249.5:c.740G>C	ENSP00000440761.1:p.Gly247Ala
ENST00000545074.5:c.854G>C	ENSP00000438550.1:p.Gly285Ala
NM_000284.3:c.833G>C	NP_000275.1:p.Gly278Ala
NM_001173454.1:c.947G>C	NP_001166925.1:p.Gly316Ala
NM_001173455.1:c.854G>C	NP_001166926.1:p.Gly285Ala
NM_001173456.1:c.740G>C	NP_001166927.1:p.Gly247Ala
XM_011545531.1:c.968G>C	XP_011543833.1:p.Gly323Ala
XM_011545532.1:c.875G>C	XP_011543834.1:p.Gly292Ala
XM_017029574.2:c.854G>C	XP_016885063.1:p.Gly285Ala
NM_000284.4:c.833G>C MANE Select	NP_000275.1:p.Gly278Ala
NM_001173454.2:c.947G>C	NP_001166925.1:p.Gly316Ala
NM_001173455.2:c.854G>C	NP_001166926.1:p.Gly285Ala
NM_001173456.2:c.740G>C	NP_001166927.1:p.Gly247Ala