Canonical Allele Identifier: CA412394833

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373860T>A (hg19) ; chrX:g.19355742T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355742T>A , CM000685.2:g.19355742T>A	GRCh38
NC_000023.10:g.19373860T>A , CM000685.1:g.19373860T>A	GRCh37
NC_000023.9:g.19283781T>A	NCBI36
NG_016781.1:g.16850T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.837T>A	ENSP00000348062.6:p.Tyr279Ter
ENST00000379805.4:c.*508T>A	ENSP00000369133.3:n.*508T>A
ENST00000417819.6:c.900T>A	ENSP00000404616.2:p.Tyr300Ter
ENST00000423505.6:c.930T>A	ENSP00000406473.2:p.Tyr310Ter
ENST00000481733.2:n.611T>A
ENST00000696704.1:c.*148T>A	ENSP00000512823.1:n.*148T>A
ENST00000696705.1:c.*271T>A	ENSP00000512824.1:n.*271T>A
ENST00000422285.7:c.816T>A MANE Select	ENSP00000394382.2:p.Tyr272Ter
ENST00000379804.1:c.-28T>A	ENSP00000369132.1:n.-28T>A
ENST00000379806.9:c.930T>A	ENSP00000369134.5:p.Tyr310Ter
ENST00000422285.6:c.816T>A	ENSP00000394382.2:p.Tyr272Ter
ENST00000481733.1:n.244T>A
ENST00000540249.5:c.723T>A	ENSP00000440761.1:p.Tyr241Ter
ENST00000545074.5:c.837T>A	ENSP00000438550.1:p.Tyr279Ter
NM_000284.3:c.816T>A	NP_000275.1:p.Tyr272Ter
NM_001173454.1:c.930T>A	NP_001166925.1:p.Tyr310Ter
NM_001173455.1:c.837T>A	NP_001166926.1:p.Tyr279Ter
NM_001173456.1:c.723T>A	NP_001166927.1:p.Tyr241Ter
XM_011545531.1:c.951T>A	XP_011543833.1:p.Tyr317Ter
XM_011545532.1:c.858T>A	XP_011543834.1:p.Tyr286Ter
XM_017029574.2:c.837T>A	XP_016885063.1:p.Tyr279Ter
NM_000284.4:c.816T>A MANE Select	NP_000275.1:p.Tyr272Ter
NM_001173454.2:c.930T>A	NP_001166925.1:p.Tyr310Ter
NM_001173455.2:c.837T>A	NP_001166926.1:p.Tyr279Ter
NM_001173456.2:c.723T>A	NP_001166927.1:p.Tyr241Ter