Canonical Allele Identifier: CA412395206

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375803T>G (hg19) ; chrX:g.19357685T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357685T>G , CM000685.2:g.19357685T>G	GRCh38
NC_000023.10:g.19375803T>G , CM000685.1:g.19375803T>G	GRCh37
NC_000023.9:g.19285724T>G	NCBI36
NG_016781.1:g.18793T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.886T>G	ENSP00000348062.6:p.Tyr296Asp
ENST00000379805.4:c.*557T>G	ENSP00000369133.3:n.*557T>G
ENST00000417819.6:c.949T>G	ENSP00000404616.2:p.Tyr317Asp
ENST00000423505.6:c.979T>G	ENSP00000406473.2:p.Tyr327Asp
ENST00000481733.2:n.660T>G
ENST00000696704.1:c.*197T>G	ENSP00000512823.1:n.*197T>G
ENST00000696705.1:c.*320T>G	ENSP00000512824.1:n.*320T>G
ENST00000422285.7:c.865T>G MANE Select	ENSP00000394382.2:p.Tyr289Asp
ENST00000379804.1:c.22T>G	ENSP00000369132.1:p.Tyr8Asp
ENST00000379806.9:c.979T>G	ENSP00000369134.5:p.Tyr327Asp
ENST00000422285.6:c.865T>G	ENSP00000394382.2:p.Tyr289Asp
ENST00000478795.1:n.304T>G
ENST00000481733.1:n.293T>G
ENST00000540249.5:c.772T>G	ENSP00000440761.1:p.Tyr258Asp
ENST00000545074.5:c.886T>G	ENSP00000438550.1:p.Tyr296Asp
NM_000284.3:c.865T>G	NP_000275.1:p.Tyr289Asp
NM_001173454.1:c.979T>G	NP_001166925.1:p.Tyr327Asp
NM_001173455.1:c.886T>G	NP_001166926.1:p.Tyr296Asp
NM_001173456.1:c.772T>G	NP_001166927.1:p.Tyr258Asp
XM_011545531.1:c.1000T>G	XP_011543833.1:p.Tyr334Asp
XM_011545532.1:c.907T>G	XP_011543834.1:p.Tyr303Asp
XM_017029574.2:c.886T>G	XP_016885063.1:p.Tyr296Asp
NM_000284.4:c.865T>G MANE Select	NP_000275.1:p.Tyr289Asp
NM_001173454.2:c.979T>G	NP_001166925.1:p.Tyr327Asp
NM_001173455.2:c.886T>G	NP_001166926.1:p.Tyr296Asp
NM_001173456.2:c.772T>G	NP_001166927.1:p.Tyr258Asp