Canonical Allele Identifier: CA412395290

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375837G>T (hg19) ; chrX:g.19357719G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357719G>T , CM000685.2:g.19357719G>T	GRCh38
NC_000023.10:g.19375837G>T , CM000685.1:g.19375837G>T	GRCh37
NC_000023.9:g.19285758G>T	NCBI36
NG_016781.1:g.18827G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920G>T	ENSP00000348062.6:p.Ser307Ile
ENST00000379805.4:c.*591G>T	ENSP00000369133.3:n.*591G>T
ENST00000417819.6:c.983G>T	ENSP00000404616.2:p.Ser328Ile
ENST00000423505.6:c.1013G>T	ENSP00000406473.2:p.Ser338Ile
ENST00000481733.2:n.694G>T
ENST00000696704.1:c.*231G>T	ENSP00000512823.1:n.*231G>T
ENST00000696705.1:c.*354G>T	ENSP00000512824.1:n.*354G>T
ENST00000422285.7:c.899G>T MANE Select	ENSP00000394382.2:p.Ser300Ile
ENST00000379804.1:c.56G>T	ENSP00000369132.1:p.Ser19Ile
ENST00000379806.9:c.1013G>T	ENSP00000369134.5:p.Ser338Ile
ENST00000422285.6:c.899G>T	ENSP00000394382.2:p.Ser300Ile
ENST00000478795.1:n.338G>T
ENST00000481733.1:n.327G>T
ENST00000540249.5:c.806G>T	ENSP00000440761.1:p.Ser269Ile
ENST00000545074.5:c.920G>T	ENSP00000438550.1:p.Ser307Ile
NM_000284.3:c.899G>T	NP_000275.1:p.Ser300Ile
NM_001173454.1:c.1013G>T	NP_001166925.1:p.Ser338Ile
NM_001173455.1:c.920G>T	NP_001166926.1:p.Ser307Ile
NM_001173456.1:c.806G>T	NP_001166927.1:p.Ser269Ile
XM_011545531.1:c.1034G>T	XP_011543833.1:p.Ser345Ile
XM_011545532.1:c.941G>T	XP_011543834.1:p.Ser314Ile
XM_017029574.2:c.920G>T	XP_016885063.1:p.Ser307Ile
NM_000284.4:c.899G>T MANE Select	NP_000275.1:p.Ser300Ile
NM_001173454.2:c.1013G>T	NP_001166925.1:p.Ser338Ile
NM_001173455.2:c.920G>T	NP_001166926.1:p.Ser307Ile
NM_001173456.2:c.806G>T	NP_001166927.1:p.Ser269Ile