Canonical Allele Identifier: CA515486088

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373824G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355706G>T , CM000685.2:g.19355706G>T	GRCh38
NC_000023.10:g.19373824G>T , CM000685.1:g.19373824G>T	GRCh37
NC_000023.9:g.19283745G>T	NCBI36
NG_016781.1:g.16814G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.801G>T	ENSP00000348062.6:p.Leu267=
ENST00000379805.4:c.*472G>T	ENSP00000369133.3:n.*472G>T
ENST00000417819.6:c.864G>T	ENSP00000404616.2:p.Leu288=
ENST00000423505.6:c.894G>T	ENSP00000406473.2:p.Leu298=
ENST00000481733.2:n.575G>T
ENST00000696704.1:c.*112G>T	ENSP00000512823.1:n.*112G>T
ENST00000696705.1:c.*235G>T	ENSP00000512824.1:n.*235G>T
ENST00000422285.7:c.780G>T MANE Select	ENSP00000394382.2:p.Leu260=
ENST00000379804.1:c.-64G>T	ENSP00000369132.1:n.-64G>T
ENST00000379806.9:c.894G>T	ENSP00000369134.5:p.Leu298=
ENST00000422285.6:c.780G>T	ENSP00000394382.2:p.Leu260=
ENST00000481733.1:n.208G>T
ENST00000540249.5:c.687G>T	ENSP00000440761.1:p.Leu229=
ENST00000545074.5:c.801G>T	ENSP00000438550.1:p.Leu267=
NM_000284.3:c.780G>T	NP_000275.1:p.Leu260=
NM_001173454.1:c.894G>T	NP_001166925.1:p.Leu298=
NM_001173455.1:c.801G>T	NP_001166926.1:p.Leu267=
NM_001173456.1:c.687G>T	NP_001166927.1:p.Leu229=
XM_011545531.1:c.915G>T	XP_011543833.1:p.Leu305=
XM_011545532.1:c.822G>T	XP_011543834.1:p.Leu274=
XM_017029574.2:c.801G>T	XP_016885063.1:p.Leu267=
NM_000284.4:c.780G>T MANE Select	NP_000275.1:p.Leu260=
NM_001173454.2:c.894G>T	NP_001166925.1:p.Leu298=
NM_001173455.2:c.801G>T	NP_001166926.1:p.Leu267=
NM_001173456.2:c.687G>T	NP_001166927.1:p.Leu229=