Canonical Allele Identifier: CA412395286

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375836A>G (hg19) ; chrX:g.19357718A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357718A>G , CM000685.2:g.19357718A>G	GRCh38
NC_000023.10:g.19375836A>G , CM000685.1:g.19375836A>G	GRCh37
NC_000023.9:g.19285757A>G	NCBI36
NG_016781.1:g.18826A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.919A>G	ENSP00000348062.6:p.Ser307Gly
ENST00000379805.4:c.*590A>G	ENSP00000369133.3:n.*590A>G
ENST00000417819.6:c.982A>G	ENSP00000404616.2:p.Ser328Gly
ENST00000423505.6:c.1012A>G	ENSP00000406473.2:p.Ser338Gly
ENST00000481733.2:n.693A>G
ENST00000696704.1:c.*230A>G	ENSP00000512823.1:n.*230A>G
ENST00000696705.1:c.*353A>G	ENSP00000512824.1:n.*353A>G
ENST00000422285.7:c.898A>G MANE Select	ENSP00000394382.2:p.Ser300Gly
ENST00000379804.1:c.55A>G	ENSP00000369132.1:p.Ser19Gly
ENST00000379806.9:c.1012A>G	ENSP00000369134.5:p.Ser338Gly
ENST00000422285.6:c.898A>G	ENSP00000394382.2:p.Ser300Gly
ENST00000478795.1:n.337A>G
ENST00000481733.1:n.326A>G
ENST00000540249.5:c.805A>G	ENSP00000440761.1:p.Ser269Gly
ENST00000545074.5:c.919A>G	ENSP00000438550.1:p.Ser307Gly
NM_000284.3:c.898A>G	NP_000275.1:p.Ser300Gly
NM_001173454.1:c.1012A>G	NP_001166925.1:p.Ser338Gly
NM_001173455.1:c.919A>G	NP_001166926.1:p.Ser307Gly
NM_001173456.1:c.805A>G	NP_001166927.1:p.Ser269Gly
XM_011545531.1:c.1033A>G	XP_011543833.1:p.Ser345Gly
XM_011545532.1:c.940A>G	XP_011543834.1:p.Ser314Gly
XM_017029574.2:c.919A>G	XP_016885063.1:p.Ser307Gly
NM_000284.4:c.898A>G MANE Select	NP_000275.1:p.Ser300Gly
NM_001173454.2:c.1012A>G	NP_001166925.1:p.Ser338Gly
NM_001173455.2:c.919A>G	NP_001166926.1:p.Ser307Gly
NM_001173456.2:c.805A>G	NP_001166927.1:p.Ser269Gly