Canonical Allele Identifier: CA412395211

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375805C>G (hg19) ; chrX:g.19357687C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357687C>G , CM000685.2:g.19357687C>G	GRCh38
NC_000023.10:g.19375805C>G , CM000685.1:g.19375805C>G	GRCh37
NC_000023.9:g.19285726C>G	NCBI36
NG_016781.1:g.18795C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.888C>G	ENSP00000348062.6:p.Tyr296Ter
ENST00000379805.4:c.*559C>G	ENSP00000369133.3:n.*559C>G
ENST00000417819.6:c.951C>G	ENSP00000404616.2:p.Tyr317Ter
ENST00000423505.6:c.981C>G	ENSP00000406473.2:p.Tyr327Ter
ENST00000481733.2:n.662C>G
ENST00000696704.1:c.*199C>G	ENSP00000512823.1:n.*199C>G
ENST00000696705.1:c.*322C>G	ENSP00000512824.1:n.*322C>G
ENST00000422285.7:c.867C>G MANE Select	ENSP00000394382.2:p.Tyr289Ter
ENST00000379804.1:c.24C>G	ENSP00000369132.1:p.Tyr8Ter
ENST00000379806.9:c.981C>G	ENSP00000369134.5:p.Tyr327Ter
ENST00000422285.6:c.867C>G	ENSP00000394382.2:p.Tyr289Ter
ENST00000478795.1:n.306C>G
ENST00000481733.1:n.295C>G
ENST00000540249.5:c.774C>G	ENSP00000440761.1:p.Tyr258Ter
ENST00000545074.5:c.888C>G	ENSP00000438550.1:p.Tyr296Ter
NM_000284.3:c.867C>G	NP_000275.1:p.Tyr289Ter
NM_001173454.1:c.981C>G	NP_001166925.1:p.Tyr327Ter
NM_001173455.1:c.888C>G	NP_001166926.1:p.Tyr296Ter
NM_001173456.1:c.774C>G	NP_001166927.1:p.Tyr258Ter
XM_011545531.1:c.1002C>G	XP_011543833.1:p.Tyr334Ter
XM_011545532.1:c.909C>G	XP_011543834.1:p.Tyr303Ter
XM_017029574.2:c.888C>G	XP_016885063.1:p.Tyr296Ter
NM_000284.4:c.867C>G MANE Select	NP_000275.1:p.Tyr289Ter
NM_001173454.2:c.981C>G	NP_001166925.1:p.Tyr327Ter
NM_001173455.2:c.888C>G	NP_001166926.1:p.Tyr296Ter
NM_001173456.2:c.774C>G	NP_001166927.1:p.Tyr258Ter